Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.L181R

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.L181R
c.542T>G
Surrounding Variants
1 paper
NM_024306.5
p.L179L
c.537G>A
1 paper
NM_024306.5
p.L183F
c.547C>T
3 papers
NM_024306.5
p.W185*
c.554G>A
2 papers
NM_024306.5
p.W185*
c.555G>A
3 papers
NM_024306.5
p.W176C
c.528G>T
3 papers
NM_024306.5
p.W176C
c.528G>C
3 papers
NM_024306.5
p.W176*
c.528G>A
6 papers
NM_024306.5
p.W176*
c.527G>A
7 papers
NM_024306.5
p.R189*
c.565C>T
2 papers
NM_024306.5
p.P173S
c.517C>T
11 papers
NM_024306.5
p.Y170_S171delFs
c.510_511delTG
16 papers
NM_024306.5
p.Y170*
c.510C>G
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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."