Varaico: Literature-Extracted Genetic Variants

Gene:ABHD13
Variant:p.K142Q

ABHD13

22 papers

Pfam Domains

Abhydrolase_1aa 115–241UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 13

HGNC Previous Symbol

C13orf6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032859.3
p.K142Q
c.424A>C
Surrounding Variants
1 paper
NM_032859.3
p.Y150C
c.449A>G
1 paper
NM_032859.3
p.R151Q
c.452G>A
1 paper
NM_032859.3
p.Y153Y
c.459T>C
1 paper
NM_032859.3
p.S169F
c.506C>T
1 paper
NM_032859.3
p.T107I
c.320C>T
1 paper
NM_032859.3
p.R105*
c.313C>T
1 paper
NM_032859.3
p.I104V
c.310A>G
1 paper
NM_032859.3
p.P180T
c.538C>A
1 paper
NM_032859.3
p.R98H
c.293G>A
1 paper
NM_032859.3
p.R98C
c.292C>T
1 paper
NM_032859.3
p.K94*
c.280A>T
1 paper
NM_032859.3
p.G191A
c.572G>C
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