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.W551*

c.1653G>A

Surrounding Variants

1 paper

NM_022481.6

p.W551*

c.1652G>A

1 paper

NM_022481.6

p.S543I

c.1628G>T

1 paper

NM_022481.6

p.L534fs

c.1600_1601fs

3 papers

NM_022481.6

p.D513N

c.1537G>A

2 papers

NM_022481.6

p.R511H

c.1532G>A

2 papers

NM_022481.6

p.A585A

c.1755G>A

1 paper

NM_022481.6

p.T586insFs

c.1756_1757ins5

1 paper

NM_022481.6

p.T586fs

c.1756_1757fs

1 paper

NM_022481.6

p.R590Q

c.1769G>A

1 paper

NM_022481.6

p.A500T

c.1498G>A

1 paper

NM_022481.6

p.R599H

c.1796G>A

1 paper

NM_022481.6

p.A492_E493delFs

c.1476_1479del4