Varaico: Literature-Extracted Genetic Variants

Gene:ACAP1
Variant:p.Q419K

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.Q419K
c.1255C>A
Surrounding Variants
1 paper
NM_014716.4
p.C423F
c.1268G>T
1 paper
NM_014716.4
p.P428_E429delins
c.1284_1285delinsAC
1 paper
NM_014716.4
p.G398R
c.1192G>A
1 paper
NM_014716.4
p.G398R
c.1192G>C
1 paper
NM_014716.4
p.W351*
c.1053G>A
1 paper
NM_014716.4
p.W351*
c.1052G>A
1 paper
NM_014716.4
p.Q341H
c.1023G>C
1 paper
NM_014716.4
p.Q341H
c.1023G>T
1 paper
NM_014716.4
p.R313_C320del8
c.937_959del24
1 paper
NM_014716.4
p.P304_V305del2
c.910_914del6
1 paper
NM_014716.4
p.L469V
c.1405C>G
1 paper
NM_014716.4
p.Q298_K299del1
c.893_895delAGA
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