Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.I431T

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.I431T
c.1292T>C
Surrounding Variants
1 paper
NM_030649.3
p.I431S
c.1292T>G
1 paper
NM_030649.3
p.L433M
c.1297C>A
1 paper
NM_030649.3
p.R427C
c.1279C>T
1 paper
NM_030649.3
p.C418C
c.1254C>T
1 paper
NM_030649.3
p.V400L
c.1198G>T
1 paper
NM_030649.3
p.V400L
c.1198G>C
1 paper
NM_030649.3
p.T393I
c.1178C>T
1 paper
NM_030649.3
p.P384L
c.1151C>T
2 papers
NM_030649.3
p.R380C
c.1138C>T
1 paper
NM_030649.3
p.G491C
c.1471G>T
1 paper
NM_030649.3
p.E514V
c.1541A>T
1 paper
NM_030649.3
p.P522delFs
c.1564delG
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