Varaico: Literature-Extracted Genetic Variants

Gene:ABHD12B
Variant:p.W130*

ABHD12B

27 papers

Pfam Domains

Hydrolase_4aa 137–291UCSCSerine aminopeptidase, S33

Gene Aliases

HGNC Name

abhydrolase domain containing 12B

HGNC Previous Symbol

C14orf29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001206673.2
p.W130*
c.389G>A
Surrounding Variants
1 paper
NM_001206673.2
p.H146_S148delFs
c.438_444del7
1 paper
NM_001206673.2
p.K162_V163Splc
c.486+1G>T
1 paper
NM_001206673.2
p.H95D
c.283C>G
1 paper
NM_001206673.2
p.P94L
c.281C>T
1 paper
NM_001206673.2
p.V64I
c.190G>A
1 paper
NM_001206673.2
p.H39Y
c.115C>T
2 papers
NM_001206673.2
p.G167D
c.500G>A
1 paper
NM_001206673.2
p.L172F
c.516G>C
1 paper
NM_001206673.2
p.L172F
c.516G>T
1 paper
NM_001206673.2
p.I196M
c.588T>G
1 paper
NM_001206673.2
p.Y199C
c.596A>G
2 papers
NM_001206673.2
p.R205G
c.613A>G
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