Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.C25W

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.C25W
c.75C>G
Surrounding Variants
1 paper
NM_024306.5
p.A24A
c.72G>T
1 paper
NM_024306.5
p.R28C
c.82C>T
2 papers
NM_024306.5
p.R28G
c.82C>G
1 paper
NM_024306.5
p.R18_L20delFs
c.53_59del7
2 papers
NM_024306.5
p.A21P
c.61G>C
1 paper
NM_024306.5
p.R18_L20del0
c.53_58del6
2 papers
NM_024306.5
p.R32G
c.94C>G
1 paper
NM_024306.5
p.R32H
c.95G>A
3 papers
NM_024306.5
p.Y34C
c.101A>G
3 papers
NM_024306.5
p.Y34*
c.102C>G
2 papers
NM_024306.5
p.Y34*
c.102C>A
19 papers
NM_024306.5
p.D35Y
c.103G>T
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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."