Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.C538delFs

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.C538delFs
c.1612_1613delCA
Surrounding Variants
1 paper
NM_030649.3
p.C538fs
c.1612_1613fs
1 paper
NM_030649.3
p.C538Y
c.1613G>A
1 paper
NM_030649.3
p.R534M
c.1601G>T
1 paper
NM_030649.3
p.A526P
c.1576G>C
2 papers
NM_030649.3
p.A524V
c.1571C>T
1 paper
NM_030649.3
p.A524T
c.1570G>A
1 paper
NM_030649.3
p.P522delFs
c.1564delG
1 paper
NM_030649.3
p.E514V
c.1541A>T
1 paper
NM_030649.3
p.G491C
c.1471G>T
1 paper
NM_030649.3
p.Y593C
c.1778A>G
2 papers
NM_030649.3
p.A596T
c.1786G>A
1 paper
NM_030649.3
p.R604H
c.1811G>A
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