Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.H260Q

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.H260Q
c.780C>G
Surrounding Variants
2 papers
NM_024306.5
p.H260Q
c.780C>A
3 papers
NM_024306.5
p.H261fs
c.781_782fs
4 papers
NM_024306.5
p.H261insFs
c.782dupA
7 papers
NM_024306.5
p.K262T
c.785A>C
1 paper
NM_024306.5
p.K262K
c.786G>A
18 papers
NM_024306.5
p.K262_A263Splc
c.786+1G>A
2 papers
NM_024306.5
p.G258S
c.772G>A
1 paper
NM_024306.5
p.V255I
c.763G>A
1 paper
NM_024306.5
p.F254delFs
c.762delG
1 paper
NM_024306.5
p.F254L
c.762C>G
1 paper
NM_024306.5
p.F254L
c.762C>A
1 paper
NM_024306.5
p.F254L
c.760T>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."