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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC27A3

Variant:p.P614delFs

SLC27A3

63 papers

RefSeq Summary

This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from in...

Pfam Domains

AMP-bindingaa 161–501UCSCAMP-binding enzyme

AMP-binding_Caa 559–635UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

solute carrier family 27 member 3

HGNC Alias Symbols

FATP3; MGC4365; ACSVL3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:153779437 GC>G

NM_024330.4

p.P614delFs

c.1841delC

AMP-binding AMP-binding_C

Exome: 0.0% (AC=673, hom=9)Genome: 0.0% (AC=21, hom=0)232 overlapping SVs

Surrounding Variants

1 paper

chr1:153779438 CCA>N

NM_024330.4

p.P614fs

c.1840_1841fs

AMP-binding AMP-binding_C

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:153779409 A>G

NM_024330.4

p.Q604R

c.1811A>G

AMP-binding AMP-binding_C

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:153779393 G>T

NM_024330.4

p.A599S

c.1795G>T

AMP-binding AMP-binding_C

Exome: 0.3% (AC=4124, hom=12)Genome: 0.2% (AC=299, hom=1)232 overlapping SVs

1 paper

chr1:153779388 C>T

NM_024330.4

p.P597L

c.1790C>T

AMP-binding AMP-binding_C

Exome: 0.0% (AC=6, hom=0)Genome: n/a232 overlapping SVs

1 paper

chr1:153779383 TC>T

NM_024330.4

p.H598delFs

c.1792delC

AMP-binding AMP-binding_C

Exome: 0.0% (AC=540, hom=1)Genome: 0.0% (AC=67, hom=1)232 overlapping SVs

1 paper

chr1:153779207 G>A

NM_024330.4

p.V580V

c.1740G>A

AMP-binding AMP-binding_C

Exome: 0.0% (AC=4, hom=0)Genome: n/a232 overlapping SVs

1 paper

chr1:153779205 G>A

NM_024330.4

p.V580M

c.1738G>A

AMP-binding AMP-binding_C

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:153779160 G>C

NM_024330.4

p.E565Q

c.1693G>C

AMP-binding AMP-binding_C

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:153779145 G>A

NM_024330.4

p.V560M

c.1678G>A

AMP-binding AMP-binding_C

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=2, hom=0)232 overlapping SVs

1 paper

chr1:153779844 G>T

NM_024330.4

p.E632*

c.1894G>T

AMP-binding_C

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:153779846 G>C

NM_024330.4

p.E632D

c.1896G>C

AMP-binding_C

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:153779846 G>T

NM_024330.4

p.E632D

c.1896G>T

AMP-binding_C

exact variant not in gnomAD232 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."