Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.Q98R

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.Q98R
c.293A>G
Surrounding Variants
1 paper
NM_030649.3
p.R104Q
c.311G>A
1 paper
NM_030649.3
p.M93_I94Splc
c.279+27G>A
1 paper
NM_030649.3
p.M93K
c.278T>A
1 paper
NM_030649.3
p.I74F
c.220A>T
1 paper
NM_030649.3
p.V73I
c.217G>A
1 paper
NM_030649.3
p.D71N
c.211G>A
5 papers
NM_030649.3
p.R62C
c.184C>T
1 paper
NM_030649.3
p.V61I
c.181G>A
1 paper
NM_030649.3
p.M43V
c.127A>G
1 paper
NM_030649.3
p.R116W
c.346C>T
1 paper
NM_030649.3
p.R116Q
c.347G>A
1 paper
NM_030649.3
p.V128M
c.382G>A
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