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

1–12 of 220 variants

4 papers

NM_003870.4

p.D32G

c.95A>G

4 papers

NM_003870.4

p.M1231I

c.3693G>A

4 papers

NM_003870.4

p.M1231I

c.3693G>C

4 papers

NM_003870.4

p.M1231I

c.3693G>T

3 papers

NM_003870.4

p.R766*

c.2296C>T

2 papers

NM_003870.4

p.Y96*

c.288T>A

2 papers

NM_003870.4

p.Y96*

c.288T>G

2 papers

NM_003870.4

p.Y103*

c.309C>A

2 papers

NM_003870.4

p.Y103*

c.309C>G

2 papers

NM_003870.4

p.N121I

c.362A>T

2 papers

NM_003870.4

p.C151R

c.451T>C

2 papers

NM_003870.4

p.G402S

c.1204G>A