Varaico: Literature-Extracted Genetic Variants

Gene:ABHD17A
Variant:p.S5delFs

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
2 papers
NM_001130111.2
p.S5delFs
c.13_14delGA
Surrounding Variants
1 paper
NM_001130111.2
p.S5S
c.15G>A
1 paper
NM_001130111.2
p.S7C
c.19A>T
1 paper
NM_001130111.2
p.C10S
c.28T>A
1 paper
NM_001130111.2
p.C10S
c.29G>C
1 paper
NM_001130111.2
p.C11S
c.31T>A
1 paper
NM_001130111.2
p.C11S
c.32G>C
2 papers
NM_001130111.2
p.L12fs
c.34_35fs
1 paper
NM_001130111.2
p.F13fs
c.37_38fs
5 papers
NM_001130111.2
p.L12_F13delFs
c.36_37delAG
4 papers
NM_001130111.2
p.F13fs
c.37_38fs
1 paper
NM_001130111.2
p.C14S
c.40T>A
6 papers
NM_001130111.2
p.F13delFs
c.39delG
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