Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.P148L

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
6 papers
NM_024306.5
p.P148L
c.443C>T
Surrounding Variants
2 papers
NM_024306.5
p.P148insFs
c.442dupC
1 paper
NM_024306.5
p.Q147_P148insFs
c.439_442dup4
3 papers
NM_024306.5
p.V149L
c.445G>T
3 papers
NM_024306.5
p.V149L
c.445G>C
1 paper
NM_024306.5
p.H146P
c.437A>C
1 paper
NM_024306.5
p.W144*
c.432G>A
1 paper
NM_024306.5
p.W144*
c.431G>A
1 paper
NM_024306.5
p.E143G
c.428A>G
19 papers
NM_024306.5
p.R154C
c.460C>T
1 paper
NM_024306.5
p.R154insFs
c.460_461insA
1 paper
NM_024306.5
p.R154H
c.461G>A
1 paper
NM_024306.5
p.V134G
c.401T>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."