Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.P44S

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
4 papers
NM_024306.5
p.P44S
c.130C>T
Surrounding Variants
1 paper
NM_024306.5
p.P44fs
c.130_131fs
1 paper
NM_024306.5
p.P44T
c.130C>A
10 papers
NM_024306.5
p.P44Q
c.131C>A
2 papers
NM_024306.5
p.P44delFs
c.131delG
8 papers
NM_024306.5
p.G45W
c.133G>T
4 papers
NM_024306.5
p.G45R
c.133G>C
4 papers
NM_024306.5
p.G45R
c.133G>A
1 paper
NM_024306.5
p.H43D
c.127C>G
5 papers
NM_024306.5
p.G46D
c.137G>A
4 papers
NM_024306.5
p.F39L
c.117C>G
4 papers
NM_024306.5
p.F39L
c.117C>A
4 papers
NM_024306.5
p.F39L
c.115T>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."