Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.A782D

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.A782D
c.2345C>A
Surrounding Variants
1 paper
NM_030649.3
p.A782T
c.2344G>A
1 paper
NM_030649.3
p.A780V
c.2339C>T
2 papers
NM_030649.3
p.A780T
c.2338G>A
1 paper
NM_030649.3
p.A776S
c.2326G>T
1 paper
NM_030649.3
p.A776P
c.2326G>C
1 paper
NM_030649.3
p.I775I
c.2325C>T
1 paper
NM_030649.3
p.G750V
c.2249G>T
1 paper
NM_030649.3
p.G750Splc
c.2250-3C>G
1 paper
NM_030649.3
p.R789C
c.2365C>T
1 paper
NM_030649.3
p.P806L
c.2417C>T
1 paper
NM_030649.3
p.P814T
c.2440C>A
1 paper
NM_030649.3
p.G750V
c.2249G>T
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