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.M123delFs

c.367_368delAT

Surrounding Variants

2 papers

NM_003870.4

p.N121I

c.362A>T

1 paper

NM_003870.4

p.N115D

c.343A>G

1 paper

NM_003870.4

p.K130_I131Splc

c.390+5C>T

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.Y96*

c.288T>A

2 papers

NM_003870.4

p.Y96*

c.288T>G

1 paper

NM_003870.4

p.K88T

c.263A>C

1 paper

NM_003870.4

p.S86A

c.256T>G

1 paper

NM_003870.4

p.K80N

c.240A>C

1 paper

NM_003870.4

p.K80N

c.240A>T

1 paper

NM_003870.4

p.E70G

c.209A>G