Varaico: Literature-Extracted Genetic Variants

Gene:ACAP2
Variant:p.E77_T78Splc

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
Selected Variant
1 paper
NM_012287.6
p.E77_T78Splc
c.231+2T>A
Surrounding Variants
1 paper
NM_012287.6
p.S71G
c.211A>G
1 paper
NM_012287.6
p.S70A
c.208T>G
1 paper
NM_012287.6
p.Q68L
c.203A>T
1 paper
NM_012287.6
p.N56H
c.166A>C
1 paper
NM_012287.6
p.C42Y
c.125G>A
1 paper
NM_012287.6
p.T81A
c.241A>G
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