Varaico: Literature-Extracted Genetic Variants

Gene:ACAP1
Variant:p.K558Q

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.K558Q
c.1672A>C
Surrounding Variants
1 paper
NM_014716.4
p.R535C
c.1603C>T
1 paper
NM_014716.4
p.G534fs
c.1600_1601fs
4 papers
NM_014716.4
p.R533W
c.1597C>T
1 paper
NM_014716.4
p.T521I
c.1562C>T
1 paper
NM_014716.4
p.M473L
c.1417A>C
1 paper
NM_014716.4
p.M473L
c.1417A>T
1 paper
NM_014716.4
p.L469V
c.1405C>G
1 paper
NM_014716.4
p.A578V
c.1733C>T
1 paper
NM_014716.4
p.G580W
c.1738G>T
1 paper
NM_014716.4
p.D597A
c.1790A>C
1 paper
NM_014716.4
p.P610L
c.1829C>T
1 paper
NM_014716.4
p.P428_E429delins
c.1284_1285delinsAC
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