Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.Q179R

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.Q179R
c.536A>G
Surrounding Variants
1 paper
NM_030649.3
p.N176S
c.527A>G
1 paper
NM_030649.3
p.K183*
c.547A>T
1 paper
NM_030649.3
p.E185*
c.553G>T
1 paper
NM_030649.3
p.L187L
c.561G>A
1 paper
NM_030649.3
p.S189_M190Splc
c.568-1G>A
1 paper
NM_030649.3
p.H195H
c.585C>T
1 paper
NM_030649.3
p.Q197R
c.590A>G
1 paper
NM_030649.3
p.L207L
c.621C>T
1 paper
NM_030649.3
p.Y214C
c.641A>G
1 paper
NM_030649.3
p.A220T
c.658G>A
1 paper
NM_030649.3
p.A220V
c.659C>T
1 paper
NM_030649.3
p.E221_L222Splc
c.664-19C>T
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