Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3

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
1–12 of 121 variants
5 papers
NM_030649.3
p.R62C
c.184C>T
2 papers
NM_030649.3
p.A307T
c.919G>A
2 papers
NM_030649.3
p.R380C
c.1138C>T
2 papers
NM_030649.3
p.A524V
c.1571C>T
2 papers
NM_030649.3
p.A596T
c.1786G>A
2 papers
NM_030649.3
p.V663M
c.1987G>A
2 papers
NM_030649.3
p.A780T
c.2338G>A
1 paper
NM_030649.3
p.E6V
c.17A>T
1 paper
NM_030649.3
p.V9I
c.25G>A
1 paper
NM_030649.3
p.K10N
c.30G>T
1 paper
NM_030649.3
p.K10N
c.30G>C
1 paper
NM_030649.3
p.A17T
c.49G>A
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