Varaico: Literature-Extracted Genetic Variants

Gene:ACAP1
Variant:p.G119D

ACAP1

48 papers

Pfam Domains

BAR_3aa 5–238UCSCBAR domain of APPL family
PHaa 266–360UCSCPH domain
ArfGapaa 405–523UCSCPutative GTPase activating protein for Arf
Ankaa 606–638UCSCAnkyrin repeat
Ankaa 639–671UCSCAnkyrin repeat

Gene Aliases

HGNC Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

HGNC Previous Symbol

CENTB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014716.4
p.G119D
c.356G>A
Surrounding Variants
1 paper
NM_014716.4
p.E122A
c.365A>C
1 paper
NM_014716.4
p.D126A
c.377A>C
2 papers
NM_014716.4
p.R129Q
c.386G>A
1 paper
NM_014716.4
p.P145fs
c.433_434fs
1 paper
NM_014716.4
p.Y166Y
c.498C>T
1 paper
NM_014716.4
p.R169Q
c.506G>A
1 paper
NM_014716.4
p.R212Q
c.635G>A
1 paper
NM_014716.4
p.Q223*
c.667C>T
2 papers
NM_014716.4
p.K235M
c.704A>T
1 paper
NM_014716.4
p.E239delFs
c.715_716delGA
1 paper
NM_014716.4
p.E239A
c.716A>C
3 papers
NM_014716.4
p.K114R
c.341A>G
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