Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.A9V

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.A9V
c.26C>T
Surrounding Variants
1 paper
NM_024306.5
p.A8fs
c.22_23fs
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.S12L
c.35C>T
2 papers
NM_024306.5
p.F11_S12del1
c.32_34delAGA
2 papers
NM_024306.5
p.P3insFs
c.9dupC
3 papers
NM_024306.5
p.M1_P3delFs
c.1_8del8
1 paper
NM_024306.5
p.A2V
c.5C>T
1 paper
NM_024306.5
p.A2insFs
c.4_5insTG
1 paper
NM_024306.5
p.M1I
c.3G>A
1 paper
NM_024306.5
p.M1delFs
c.2delA
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