Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.H336D

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
2 papers
NM_024306.5
p.H336D
c.1006C>G
Surrounding Variants
2 papers
NM_024306.5
p.H336N
c.1006C>A
1 paper
NM_024306.5
p.G326D
c.977G>A
7 papers
NM_024306.5
p.G326S
c.976G>A
1 paper
NM_024306.5
p.P323_G326delins
c.968_976delinsAGCACAAGA
1 paper
NM_024306.5
p.G347Splc
c.1039+2T>G
13 papers
NM_024306.5
p.P323L
c.968C>T
8 papers
NM_024306.5
p.P323Q
c.968C>A
3 papers
NM_024306.5
p.S322L
c.965C>T
1 paper
NM_024306.5
p.G321R
c.961G>C
6 papers
NM_024306.5
p.H319R
c.956A>G
1 paper
NM_024306.5
p.L318Q
c.953T>A
1 paper
NM_024306.5
p.Y317C
c.950A>G
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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."