Varaico: Literature-Extracted Genetic Variants

Gene:ABHD17A
Variant:p.V38G

ABHD17A

50 papers

Pfam Domains

Hydrolase_4aa 108–229UCSCSerine aminopeptidase, S33

Gene Aliases

HGNC Name

abhydrolase domain containing 17A, depalmitoylase

HGNC Previous Symbols

C19orf27; FAM108A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001130111.2
p.V38G
c.113T>G
Surrounding Variants
1 paper
NM_001130111.2
p.V38L
c.112G>C
3 papers
NM_001130111.2
p.S36_L37del2
c.106_110del6
3 papers
NM_001130111.2
p.V38_E40del3
c.112_119del9
2 papers
NM_001130111.2
p.A50T
c.148G>A
5 papers
NM_001130111.2
p.L53S
c.158T>C
1 paper
NM_001130111.2
p.I22F
c.64A>T
1 paper
NM_001130111.2
p.R57R
c.169A>C
1 paper
NM_001130111.2
p.P19H
c.56C>A
1 paper
NM_001130111.2
p.R57R
c.171A>G
1 paper
NM_001130111.2
p.C18*
c.54C>A
1 paper
NM_001130111.2
p.C18S
c.53G>C
1 paper
NM_001130111.2
p.C18S
c.52T>A
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