Varaico: Literature-Extracted Genetic Variants

IQGAP1

198 papers

RefSeq Summary

This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskelet...

Pfam Domains

CHaa 44–161UCSCCalponin homology (CH) domain

IQaa 747–766UCSCIQ calmodulin-binding motif

IQaa 776–796UCSCIQ calmodulin-binding motif

IQaa 806–826UCSCIQ calmodulin-binding motif

IQaa 837–856UCSCIQ calmodulin-binding motif

RasGAPaa 1025–1237UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

IQ motif containing GTPase activating protein 1

HGNC Alias Symbols

p195; KIAA0051; SAR1; HUMORFA01

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003870.4

p.Y43F

c.128A>T

Surrounding Variants

1 paper

NM_003870.4

p.V39L

c.115G>T

1 paper

NM_003870.4

p.V39fs

c.115_116fs

1 paper

NM_003870.4

p.R52K

c.155G>A

1 paper

NM_003870.4

p.E33_R35Fs

c.98_104delinsTCCFs

4 papers

NM_003870.4

p.D32G

c.95A>G

1 paper

NM_003870.4

p.E24*

c.70G>T

1 paper

NM_003870.4

p.S19F

c.56C>T

1 paper

NM_003870.4

p.P15_H16insFs

c.45_46insT

1 paper

NM_003870.4

p.V12E

c.35T>A

1 paper

NM_003870.4

p.L10P

c.29T>C

1 paper

NM_003870.4

p.D8E

c.24C>A

1 paper

NM_003870.4

p.D8E

c.24C>G