Varaico: Literature-Extracted Genetic Variants

Gene:ABHD14B
Variant:p.A186V

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
Selected Variant
1 paper
NM_001146314.2
p.A186V
c.557C>T
Surrounding Variants
2 papers
NM_001146314.2
p.A186A
c.558G>A
1 paper
NM_001146314.2
p.K184K
c.552G>A
1 paper
NM_001146314.2
p.K184*
c.550A>T
1 paper
NM_001146314.2
p.I182I
c.546C>A
1 paper
NM_001146314.2
p.C190Y
c.569G>A
1 paper
NM_001146314.2
p.L172P
c.515T>C
1 paper
NM_001146314.2
p.P163L
c.488C>T
1 paper
NM_001146314.2
p.K141R
c.422A>G
2 papers
NM_001146314.2
p.A135P
c.403G>C
1 paper
NM_001146314.2
p.S111*
c.332C>A
1 paper
NM_001146314.2
p.S111A
c.331T>G
1 paper
NM_001146314.2
p.V106fs
c.316_317fs
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