Varaico: Literature-Extracted Genetic Variants

Gene:ABHD4
Variant:p.R227delFs

ABHD4

40 papers

Pfam Domains

Abhydrolase_1aa 69–327UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 4, N-acyl phospholipase B

HGNC Alias Symbol

FLJ12816

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022060.3
p.R227delFs
c.679delC
Surrounding Variants
1 paper
NM_022060.3
p.R227fs
c.679_680fs
1 paper
NM_022060.3
p.D224Y
c.670G>T
1 paper
NM_022060.3
p.P223L
c.668C>T
1 paper
NM_022060.3
p.R222W
c.664C>T
1 paper
NM_022060.3
p.G214V
c.641G>T
1 paper
NM_022060.3
p.S251Splc
c.752+10G>A
1 paper
NM_022060.3
p.G214V
c.641G>T
1 paper
NM_022060.3
p.L198_G199insFs
c.594_595insC
1 paper
NM_022060.3
p.L198R
c.593T>G
1 paper
NM_022060.3
p.A193A
c.579C>T
1 paper
NM_022060.3
p.A193V
c.578C>T
1 paper
NM_022060.3
p.P188A
c.562C>G
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