Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.M214T

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.M214T
c.641T>C
Surrounding Variants
1 paper
NM_024306.5
p.K212*
c.634A>T
4 papers
NM_024306.5
p.G217R
c.649G>C
4 papers
NM_024306.5
p.G217R
c.649G>A
1 paper
NM_024306.5
p.P211S
c.631C>T
2 papers
NM_024306.5
p.L218P
c.653T>C
1 paper
NM_024306.5
p.T207delFs
c.619_620delGT
11 papers
NM_024306.5
p.T207M
c.620C>T
1 paper
NM_024306.5
p.T207fs
c.619_620fs
2 papers
NM_024306.5
p.G222R
c.664G>C
2 papers
NM_024306.5
p.G222R
c.664G>A
1 paper
NM_024306.5
p.T223I
c.668C>T
1 paper
NM_024306.5
p.L225P
c.674T>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."