Varaico: Literature-Extracted Genetic Variants

ARAP3

135 papers

RefSeq Summary

This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangement...

Pfam Domains

SAM_2aa 4–64UCSCSAM domain (Sterile alpha motif)

PHaa 288–379UCSCPH domain

ArfGapaa 489–607UCSCPutative GTPase activating protein for Arf

RhoGAPaa 920–1068UCSCRhoGAP domain

RAaa 1117–1209UCSCRas association (RalGDS/AF-6) domain

PHaa 1227–1325UCSCPH domain

Gene Aliases

HGNC Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

HGNC Previous Symbol

CENTD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022481.6

p.Q765*

c.2293C>T

Surrounding Variants

2 papers

NM_022481.6

p.A760T

c.2278G>A

1 paper

NM_022481.6

p.D773Y

c.2317G>T

1 paper

NM_022481.6

p.P743insFs

c.2228dupC

1 paper

NM_022481.6

p.P743fs

c.2227_2228fs

1 paper

NM_022481.6

p.L727L

c.2181C>A

1 paper

NM_022481.6

p.V710E

c.2129T>A

1 paper

NM_022481.6

p.P697L

c.2090C>T

1 paper

NM_022481.6

p.S689C

c.2065A>T

1 paper

NM_022481.6

p.C685Y

c.2054G>A

1 paper

NM_022481.6

p.S680N

c.2039G>A

1 paper

NM_022481.6

p.K631N

c.1893G>T

1 paper

NM_022481.6

p.K631N

c.1893G>C