Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.E324*

ACAP3

90 papers

Pfam Domains

BAR_3aa 3–236UCSCBAR domain of APPL family
PHaa 269–363UCSCPH domain
ArfGapaa 403–521UCSCPutative GTPase activating protein for Arf
Ank_2aa 672–766UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

HGNC Previous Symbol

CENTB5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030649.3
p.E324*
c.970G>T
Surrounding Variants
1 paper
NM_030649.3
p.R316H
c.947G>A
1 paper
NM_030649.3
p.V310M
c.928G>A
2 papers
NM_030649.3
p.A307T
c.919G>A
1 paper
NM_030649.3
p.S347C
c.1040C>G
1 paper
NM_030649.3
p.V355G
c.1064T>G
1 paper
NM_030649.3
p.E376_R377Splc
c.1128+1G>A
1 paper
NM_030649.3
p.L304L
c.912C>A
1 paper
NM_030649.3
p.L298L
c.892C>T
1 paper
NM_030649.3
p.S292S
c.876C>G
1 paper
NM_030649.3
p.R288R
c.864G>A
1 paper
NM_030649.3
p.K284Q
c.850A>C
1 paper
NM_030649.3
p.S280R
c.840C>G
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."