Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.S70L

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
8 papers
NM_024306.5
p.S70L
c.209C>T
Surrounding Variants
4 papers
NM_024306.5
p.H69Y
c.205C>T
1 paper
NM_024306.5
p.H67_R68del1
c.200_202delTGT
2 papers
NM_024306.5
p.R68_N72delFs
c.204_214del11
1 paper
NM_024306.5
p.H67D
c.199C>G
6 papers
NM_024306.5
p.P65S
c.193C>T
1 paper
NM_024306.5
p.G64W
c.190G>T
1 paper
NM_024306.5
p.L77L
c.229C>T
7 papers
NM_024306.5
p.L77R
c.230T>G
1 paper
NM_024306.5
p.D63H
c.187G>C
1 paper
NM_024306.5
p.E78Q
c.232G>C
10 papers
NM_024306.5
p.E78K
c.232G>A
1 paper
NM_024306.5
p.R53_S59del7
c.157_176del21
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