Varaico: Literature-Extracted Genetic Variants

Gene:ABHD14B

ABHD14B

26 papers

Pfam Domains

Abhydrolase_6aa 35–138UCSCAlpha/beta hydrolase family
Abhydrolase_6aa 35–138UCSCAlpha/beta hydrolase family

Gene Aliases

HGNC Name

abhydrolase domain containing 14B

HGNC Alias Symbol

MGC15429

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
3 papers
NM_001146314.2
p.P105insFs
c.314_315insC
2 papers
NM_001146314.2
p.Q17*
c.49C>T
2 papers
NM_001146314.2
p.A135P
c.403G>C
2 papers
NM_001146314.2
p.A186A
c.558G>A
1 paper
NM_001146314.2
p.R8C
c.22C>T
1 paper
NM_001146314.2
p.E9E
c.27G>A
1 paper
NM_001146314.2
p.S34F
c.101C>T
1 paper
NM_001146314.2
p.I41F
c.121A>T
1 paper
NM_001146314.2
p.R56W
c.166A>T
1 paper
NM_001146314.2
p.Y62N
c.184T>A
1 paper
NM_001146314.2
p.D68E
c.204C>G
1 paper
NM_001146314.2
p.D68E
c.204C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."