Varaico: Literature-Extracted Genetic Variants

Gene:ABHD17A
Variant:p.R57R

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
1 paper
NM_001130111.2
p.R57R
c.169A>C
Surrounding Variants
1 paper
NM_001130111.2
p.R57R
c.171A>G
5 papers
NM_001130111.2
p.L53S
c.158T>C
2 papers
NM_001130111.2
p.A50T
c.148G>A
5 papers
NM_001130111.2
p.T71A
c.211A>G
3 papers
NM_001130111.2
p.V38_E40del3
c.112_119del9
5 papers
NM_001130111.2
p.V38G
c.113T>G
1 paper
NM_001130111.2
p.V38L
c.112G>C
3 papers
NM_001130111.2
p.S36_L37del2
c.106_110del6
1 paper
NM_001130111.2
p.S79C
c.235A>T
1 paper
NM_001130111.2
p.Q80L
c.239A>T
2 papers
NM_001130111.2
p.E82K
c.244G>A
1 paper
NM_001130111.2
p.I22F
c.64A>T
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