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.K1528R

c.4583A>G

Surrounding Variants

1 paper

NM_003870.4

p.A1539T

c.4615G>A

1 paper

NM_003870.4

p.Y1510*

c.4530C>A

1 paper

NM_003870.4

p.Y1510*

c.4530C>G

1 paper

NM_003870.4

p.T1509I

c.4526C>T

1 paper

NM_003870.4

p.I1489M

c.4467T>G

1 paper

NM_003870.4

p.R1487K

c.4460G>A

1 paper

NM_003870.4

p.K1475R

c.4424A>G

1 paper

NM_003870.4

p.K1465R

c.4394A>G

1 paper

NM_003870.4

p.S1443A

c.4327T>G

2 papers

NM_003870.4

p.S1441A

c.4321T>G

1 paper

NM_003870.4

p.T1434A

c.4300A>G

1 paper

NM_003870.4

p.R1427L

c.4280G>T