Varaico: Literature-Extracted Genetic Variants

Gene:ABHD14A
Variant:p.R94Splc

ABHD14A

31 papers

Pfam Domains

Abhydrolase_6aa 97–201UCSCAlpha/beta hydrolase family

Gene Aliases

HGNC Name

abhydrolase domain containing 14A

HGNC Alias Symbols

DKFZP564O243; DORZ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015407.5
p.R94Splc
c.282-10G>C
Surrounding Variants
1 paper
NM_015407.5
p.R94Splc
c.282-25A>T
1 paper
NM_015407.5
p.T109T
c.327G>A
1 paper
NM_015407.5
p.Q117K
c.349C>A
1 paper
NM_015407.5
p.R84H
c.251G>A
2 papers
NM_015407.5
p.C61W
c.183C>G
1 paper
NM_015407.5
p.G54D
c.161G>A
3 papers
NM_015407.5
p.R32Q
c.95G>A
2 papers
NM_015407.5
p.P23_T24Splc
c.70-8C>T
1 paper
NM_015407.5
p.G148R
c.442G>A
1 paper
NM_015407.5
p.G148R
c.442G>C
1 paper
NM_015407.5
p.R155W
c.463C>T
1 paper
NM_015407.5
p.D159N
c.475G>A
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