Varaico: Literature-Extracted Genetic Variants

Gene:ACAP2
Variant:p.Y298H

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.Y298H
c.892T>C
Surrounding Variants
1 paper
NM_012287.6
p.R287P
c.860G>C
1 paper
NM_012287.6
p.P306L
c.917C>T
1 paper
NM_012287.6
p.V308M
c.922G>A
1 paper
NM_012287.6
p.R326*
c.976C>T
1 paper
NM_012287.6
p.E393Q
c.1177G>C
1 paper
NM_012287.6
p.R423fs
c.1267_1268fs
1 paper
NM_012287.6
p.R423_L429delFs
c.1267_1285del19
1 paper
NM_012287.6
p.I440M
c.1320T>G
1 paper
NM_012287.6
p.T455P
c.1363A>C
1 paper
NM_012287.6
p.E462E
c.1386A>G
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