Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.H67D

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.H67D
c.199C>G
Surrounding Variants
1 paper
NM_024306.5
p.H67_R68del1
c.200_202delTGT
6 papers
NM_024306.5
p.P65S
c.193C>T
4 papers
NM_024306.5
p.H69Y
c.205C>T
1 paper
NM_024306.5
p.G64W
c.190G>T
8 papers
NM_024306.5
p.S70L
c.209C>T
1 paper
NM_024306.5
p.D63H
c.187G>C
2 papers
NM_024306.5
p.R68_N72delFs
c.204_214del11
1 paper
NM_024306.5
p.R53_S59del7
c.157_176del21
13 papers
NM_024306.5
p.R53_I58del6
c.157_173del18
1 paper
NM_024306.5
p.I58del1
c.172_173delGAT
1 paper
NM_024306.5
p.I58fs
c.172_173fs
1 paper
NM_024306.5
p.A54_D57insFs
c.162_171dup10
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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."