Varaico: Literature-Extracted Genetic Variants

Gene:ACAP2

ACAP2

44 papers

Pfam Domains

BAR_3aa 5–238UCSCBAR domain of APPL family
PHaa 267–361UCSCPH domain
ArfGapaa 399–516UCSCPutative GTPase activating protein for Arf
Ank_2aa 610–704UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

HGNC Previous Symbol

CENTB2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
2 papers
NM_012287.6
p.L35F
c.103C>T
2 papers
NM_012287.6
p.N618S
c.1853A>G
1 paper
NM_012287.6
p.M1insFs
c.1_2ins4
1 paper
NM_012287.6
p.M1fs
c.1_2fs
1 paper
NM_012287.6
p.M1delFs
c.2delA
1 paper
NM_012287.6
p.R16C
c.46C>T
1 paper
NM_012287.6
p.R16P
c.47G>C
1 paper
NM_012287.6
p.D27E
c.81T>A
1 paper
NM_012287.6
p.A29S
c.85G>T
1 paper
NM_012287.6
p.C42Y
c.125G>A
1 paper
NM_012287.6
p.N56H
c.166A>C
1 paper
NM_012287.6
p.Q68L
c.203A>T
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