Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.A2insFs

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.A2insFs
c.4_5insTG
Surrounding Variants
1 paper
NM_024306.5
p.M1I
c.3G>A
1 paper
NM_024306.5
p.M1delFs
c.2delA
1 paper
NM_024306.5
p.A2V
c.5C>T
1 paper
NM_024306.5
p.M1L
c.1A>T
2 papers
NM_024306.5
p.M1V
c.1A>G
2 papers
NM_024306.5
p.M1L
c.1A>C
3 papers
NM_024306.5
p.M1_P3delFs
c.1_8del8
2 papers
NM_024306.5
p.P3insFs
c.9dupC
1 paper
NM_024306.5
p.P6insFs
c.16dupC
5 papers
NM_024306.5
p.P7delFs
c.21delG
2 papers
NM_024306.5
p.A8fs
c.22_23fs
1 paper
NM_024306.5
p.A8fs
c.22_23fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."