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

2 papers

NM_003870.4

p.Y795delFs

c.2385delT

Surrounding Variants

1 paper

NM_003870.4

p.Q796insFs

c.2386_2387insC

2 papers

NM_003870.4

p.Y795fs

c.2383_2384fs

1 paper

NM_003870.4

p.D797Y

c.2389G>T

1 paper

NM_003870.4

p.G788V

c.2363G>T

1 paper

NM_003870.4

p.S814S

c.2442C>T

1 paper

NM_003870.4

p.R833W

c.2497C>T

1 paper

NM_003870.4

p.D838D

c.2514C>T

1 paper

NM_003870.4

p.K856K

c.2568G>A

1 paper

NM_003870.4

p.L858R

c.2573T>G

1 paper

NM_003870.4

p.N860S

c.2579A>G

1 paper

NM_003870.4

p.R870Q

c.2609G>A

2 papers

NM_003870.4

p.L772R

c.2315T>G