Varaico: Literature-Extracted Genetic Variants

Gene:ACAP2
Variant:p.L728*

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.L728*
c.2183T>A
Surrounding Variants
1 paper
NM_012287.6
p.L728*
c.2183T>G
1 paper
NM_012287.6
p.T724P
c.2170A>C
1 paper
NM_012287.6
p.V723A
c.2168T>C
1 paper
NM_012287.6
p.G652C
c.1954G>T
1 paper
NM_012287.6
p.S758fs
c.2272_2273fs
2 papers
NM_012287.6
p.N618S
c.1853A>G
1 paper
NM_012287.6
p.L608F
c.1822C>T
1 paper
NM_012287.6
p.E589Splc
c.1766-10T>C
1 paper
NM_012287.6
p.Q567delFs
c.1701delC
1 paper
NM_012287.6
p.R559K
c.1676G>A
1 paper
NM_012287.6
p.K511I
c.1532A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."