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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC3

Variant:p.L417R

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

chr20:13126688 T>G

NM_018327.4

p.L417R

c.1250T>G

Aminotran_1_2

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

3 papers

chr20:13117718 G>T

NM_018327.4

p.G382V

c.1145G>T

Aminotran_1_2

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:13117700 C>T

NM_018327.4

p.S376L

c.1127C>T

Aminotran_1_2

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:13117658 T>C

NM_018327.4

p.V362A

c.1085T>C

Aminotran_1_2

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=5, hom=0)12 overlapping SVs

1 paper

chr20:13117630 G>A

NM_018327.4

p.E353K

c.1057G>A

Aminotran_1_2

exact variant not in gnomAD12 overlapping SVs

2 papers

chr20:13117612 A>C

NM_018327.4

p.T347P

c.1039A>C

Aminotran_1_2

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

1 paper

chr20:13117591 A>T

NM_018327.4

p.S340C

c.1018A>T

Aminotran_1_2

Exome: 0.0% (AC=4, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr20:13117559 A>G

NM_018327.4

p.Y329C

c.986A>G

Aminotran_1_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a12 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."