Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.E272Q

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.E272Q
c.814G>C
Surrounding Variants
1 paper
NM_030649.3
p.M271I
c.813G>T
1 paper
NM_030649.3
p.M271I
c.813G>C
1 paper
NM_030649.3
p.M271I
c.813G>A
1 paper
NM_030649.3
p.S267C
c.799A>T
1 paper
NM_030649.3
p.S280R
c.838A>C
1 paper
NM_030649.3
p.S280R
c.840C>G
1 paper
NM_030649.3
p.S280R
c.840C>A
1 paper
NM_030649.3
p.E260V
c.779A>T
1 paper
NM_030649.3
p.K284Q
c.850A>C
1 paper
NM_030649.3
p.D255N
c.763G>A
1 paper
NM_030649.3
p.R288R
c.864G>A
1 paper
NM_030649.3
p.S292S
c.876C>G
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