Varaico: Literature-Extracted Genetic Variants

Gene:ABHD17A
Variant:p.C18*

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.C18*
c.54C>A
Surrounding Variants
1 paper
NM_001130111.2
p.C18S
c.53G>C
1 paper
NM_001130111.2
p.C18S
c.52T>A
1 paper
NM_001130111.2
p.P19H
c.56C>A
1 paper
NM_001130111.2
p.C15S
c.44G>C
2 papers
NM_001130111.2
p.F13_C14del2
c.37_41del6
1 paper
NM_001130111.2
p.I22F
c.64A>T
1 paper
NM_001130111.2
p.C15S
c.43T>A
1 paper
NM_001130111.2
p.C14S
c.41G>C
1 paper
NM_001130111.2
p.F13_C14delFs
c.39_40delAG
4 papers
NM_001130111.2
p.F13_C14del1
c.38_40delAGA
1 paper
NM_001130111.2
p.C14S
c.40T>A
6 papers
NM_001130111.2
p.F13delFs
c.39delG
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