Varaico: Literature-Extracted Genetic Variants

Gene:ACAP1
Variant:p.Q102delFs

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.Q102delFs
c.304_305delCA
Surrounding Variants
1 paper
NM_014716.4
p.Q102del1
c.304_305delCAA
1 paper
NM_014716.4
p.A100delFs
c.298_299delGC
1 paper
NM_014716.4
p.L105_Q107delFs
c.313_320del8
1 paper
NM_014716.4
p.Q106K
c.316C>A
3 papers
NM_014716.4
p.K114R
c.341A>G
1 paper
NM_014716.4
p.D92A
c.275A>C
1 paper
NM_014716.4
p.F83_N88del6
c.247_263del18
1 paper
NM_014716.4
p.P72P
c.216A>G
1 paper
NM_014716.4
p.K37_L38Splc
c.112-1G>C
1 paper
NM_014716.4
p.G119D
c.356G>A
1 paper
NM_014716.4
p.E122A
c.365A>C
1 paper
NM_014716.4
p.D126A
c.377A>C
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