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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC3

Variant:p.V162I

SPTLC3

42 papers

RefSeq Summary

This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and gene...

Pfam Domains

Aminotran_1_2aa 160–520UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

serine palmitoyltransferase long chain base subunit 3

HGNC Previous Symbols

C20orf38; SPTLC2L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:13074374 G>A

NM_018327.4

p.V162I

c.484G>A

Aminotran_1_2

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=7, hom=0)12 overlapping SVs

Surrounding Variants

1 paper

chr20:13074394 T>A

NM_018327.4

p.Y168*

c.504T>A

Aminotran_1_2

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:13074394 T>G

NM_018327.4

p.Y168*

c.504T>G

Aminotran_1_2

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:13074476 G>A

NM_018327.4

p.A196T

c.586G>A

Aminotran_1_2

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=0, hom=0)12 overlapping SVs

1 paper

chr20:13074489 A>T

NM_018327.4

p.H200L

c.599A>T

Aminotran_1_2

exact variant not in gnomAD12 overlapping SVs

2 papers

chr20:13072400 T>A

NM_018327.4

p.W150R

c.448T>A

exact variant not in gnomAD12 overlapping SVs

2 papers

chr20:13072400 T>C

NM_018327.4

p.W150R

c.448T>C

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=2, hom=0)12 overlapping SVs

1 paper

chr20:13072370 T>G

NM_018327.4

p.L140V

c.418T>G

Exome: 72.1% (AC=1051399, hom=382111)Genome: 78.1% (AC=118892, hom=47334)12 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."