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.S458L

c.1373C>T

Surrounding Variants

1 paper

NM_003870.4

p.S459L

c.1376C>T

1 paper

NM_003870.4

p.A453S

c.1357G>T

1 paper

NM_003870.4

p.S451C

c.1352C>G

1 paper

NM_003870.4

p.G470E

c.1409G>A

1 paper

NM_003870.4

p.L445R

c.1334T>G

1 paper

NM_003870.4

p.V475A

c.1424T>C

1 paper

NM_003870.4

p.L479L

c.1437G>A

1 paper

NM_003870.4

p.V483D

c.1448T>A

1 paper

NM_003870.4

p.L486I

c.1456C>A

1 paper

NM_003870.4

p.E491insFs

c.1472_1473insA

1 paper

NM_003870.4

p.E442*

c.1324G>T

1 paper

NM_003870.4

p.T435A

c.1303A>G