Varaico: Literature-Extracted Genetic Variants

IQGAP2

127 papers

RefSeq Summary

This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with component...

Pfam Domains

CHaa 41–158UCSCCalponin homology (CH) domain

IQaa 691–711UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

IQ motif containing GTPase activating protein 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006633.5

p.H750_N751Splc

c.2251-2A>T

Surrounding Variants

1 paper

NM_006633.5

p.E753*

c.2257G>T

1 paper

NM_006633.5

p.A763A

c.2289G>A

1 paper

NM_006633.5

p.K771E

c.2311A>G

1 paper

NM_006633.5

p.K726_I727Splc

c.2179-1G>A

3 papers

NM_006633.5

p.I724V

c.2170A>G

1 paper

NM_006633.5

p.Y710_M711insT

c.2128_2132ins3

1 paper

NM_006633.5

p.E709_Y710insT

c.2125_2129ins3

1 paper

NM_006633.5

p.V774Splc

c.2321-2A>G

1 paper

NM_006633.5

p.P780L

c.2339C>T

1 paper

NM_006633.5

p.A817_L821delFs

c.2451_2461del11

1 paper

NM_006633.5

p.Q820R

c.2459A>G

1 paper

NM_006633.5

p.T841P

c.2521A>C