Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.W169Splc

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.W169Splc
c.506+6C>G
Surrounding Variants
3 papers
NM_024306.5
p.V168_W169delFs
c.503_506del4
2 papers
NM_024306.5
p.W169_Y170ins10
c.505_509ins30
1 paper
NM_024306.5
p.V168fs
c.502_503fs
2 papers
NM_024306.5
p.L164P
c.491T>C
2 papers
NM_024306.5
p.E162D
c.486G>T
2 papers
NM_024306.5
p.E162D
c.486G>C
2 papers
NM_024306.5
p.H157_E162insFs
c.469_484dup16
1 paper
NM_024306.5
p.R154H
c.461G>A
19 papers
NM_024306.5
p.R154C
c.460C>T
1 paper
NM_024306.5
p.R154insFs
c.460_461insA
3 papers
NM_024306.5
p.V149L
c.445G>T
3 papers
NM_024306.5
p.V149L
c.445G>C
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