Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.C287R

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
3 papers
NM_024306.5
p.C287R
c.859T>C
Surrounding Variants
1 paper
NM_024306.5
p.L286F
c.858G>C
1 paper
NM_024306.5
p.L290F
c.868C>T
1 paper
NM_024306.5
p.P293P
c.879C>T
1 paper
NM_024306.5
p.A295V
c.884C>T
1 paper
NM_024306.5
p.P274_V275delFs
c.822_823delCA
1 paper
NM_024306.5
p.P274delFs
c.822delA
1 paper
NM_024306.5
p.T299S
c.895A>T
1 paper
NM_024306.5
p.T299S
c.896C>G
1 paper
NM_024306.5
p.F272I
c.814T>A
2 papers
NM_024306.5
p.G303V
c.908G>T
3 papers
NM_024306.5
p.G304C
c.910G>T
1 paper
NM_024306.5
p.G304S
c.910G>A
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