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

6 papers

NM_022481.6

p.T1428P

c.4282A>C

Surrounding Variants

1 paper

NM_022481.6

p.L1439fs

c.4315_4316fs

1 paper

NM_022481.6

p.K1443N

c.4329G>T

1 paper

NM_022481.6

p.K1443N

c.4329G>C

1 paper

NM_022481.6

p.D1446G

c.4337A>G

1 paper

NM_022481.6

p.P1401_P1406del6

c.4201_4217del18

1 paper

NM_022481.6

p.P1401_P1406del0

c.4203_4217del15

1 paper

NM_022481.6

p.E1393D

c.4179G>T

1 paper

NM_022481.6

p.E1393D

c.4179G>C

3 papers

NM_022481.6

p.R1478Q

c.4433G>A

2 papers

NM_022481.6

p.Q1476_G1479del0

c.4426_4437del12

1 paper

NM_022481.6

p.L1503L

c.4509G>T

1 paper

NM_022481.6

p.P1531S

c.4591C>T