Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.F625L

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.F625L
c.1873T>C
Surrounding Variants
1 paper
NM_030649.3
p.F625L
c.1875C>G
1 paper
NM_030649.3
p.F625L
c.1875C>A
1 paper
NM_030649.3
p.G626S
c.1876G>A
1 paper
NM_030649.3
p.D632H
c.1894G>C
1 paper
NM_030649.3
p.S607G
c.1819A>G
2 papers
NM_030649.3
p.V663M
c.1987G>A
1 paper
NM_030649.3
p.H673P
c.2018A>C
1 paper
NM_030649.3
p.R679C
c.2035C>T
1 paper
NM_030649.3
p.A685V
c.2054C>T
1 paper
NM_030649.3
p.A692T
c.2074G>A
1 paper
NM_030649.3
p.E693K
c.2077G>A
1 paper
NM_030649.3
p.A697V
c.2090C>T
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