Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.L131fs

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.L131fs
c.391_392fs
Surrounding Variants
1 paper
NM_024306.5
p.P129_L130insFs
c.387_390dup4
1 paper
NM_024306.5
p.L131insFs
c.392_393insA
1 paper
NM_024306.5
p.L130_L131insFs
c.390_391ins4
1 paper
NM_024306.5
p.W126_L130delFs
c.376_388del13
6 papers
NM_024306.5
p.L130F
c.388C>T
1 paper
NM_024306.5
p.V134G
c.401T>G
2 papers
NM_024306.5
p.R127*
c.379C>T
2 papers
NM_024306.5
p.D122_L123delFs
c.366_367delGG
1 paper
NM_024306.5
p.E143G
c.428A>G
1 paper
NM_024306.5
p.W144*
c.431G>A
1 paper
NM_024306.5
p.W144*
c.432G>A
1 paper
NM_024306.5
p.H146P
c.437A>C
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