Varaico: Literature-Extracted Genetic Variants

Gene:FA2H

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
1–12 of 230 variants
19 papers
NM_024306.5
p.D35Y
c.103G>T
19 papers
NM_024306.5
p.R154C
c.460C>T
19 papers
NM_024306.5
p.R235C
c.703C>T
18 papers
NM_024306.5
p.K262_A263Splc
c.786+1G>A
16 papers
NM_024306.5
p.Y170*
c.510C>G
16 papers
NM_024306.5
p.Y170*
c.510C>A
13 papers
NM_024306.5
p.R53_I58del6
c.157_173del18
13 papers
NM_024306.5
p.Q90_G91Splc
c.270+3A>T
13 papers
NM_024306.5
p.P323L
c.968C>T
12 papers
NM_024306.5
p.F236S
c.707T>C
11 papers
NM_024306.5
p.Y170_S171delFs
c.510_511delTG
11 papers
NM_024306.5
p.T207M
c.620C>T
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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."