Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.D312Y

FA2H

219 papers

RefSeq Summary

This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes an...

Pfam Domains

Cyt-b5aa 12–86UCSCCytochrome b5-like Heme/Steroid binding domain
FA_hydroxylaseaa 219–361UCSCFatty acid hydroxylase

Gene Aliases

HGNC Name

fatty acid 2-hydroxylase

HGNC Previous Symbols

FAXDC1; SPG35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024306.5
p.D312Y
c.934G>T
Surrounding Variants
1 paper
NM_024306.5
p.V309I
c.925G>A
1 paper
NM_024306.5
p.G307A
c.920G>C
2 papers
NM_024306.5
p.Y317D
c.949T>G
1 paper
NM_024306.5
p.Y317C
c.950A>G
1 paper
NM_024306.5
p.L318Q
c.953T>A
1 paper
NM_024306.5
p.L305fs
c.913_914fs
1 paper
NM_024306.5
p.G304insFs
c.911dupG
6 papers
NM_024306.5
p.H319R
c.956A>G
3 papers
NM_024306.5
p.G304C
c.910G>T
1 paper
NM_024306.5
p.G304S
c.910G>A
2 papers
NM_024306.5
p.G303V
c.908G>T
1 paper
NM_024306.5
p.G321R
c.961G>C
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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."