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

4 papers

NM_003870.4

p.M1231I

c.3693G>C

Surrounding Variants

4 papers

NM_003870.4

p.M1231I

c.3693G>A

4 papers

NM_003870.4

p.M1231I

c.3693G>T

1 paper

NM_003870.4

p.K1230R

c.3689A>G

2 papers

NM_003870.4

p.H1234L

c.3701A>T

1 paper

NM_003870.4

p.L1225L

c.3673C>T

1 paper

NM_003870.4

p.L1242V

c.3724C>G

2 papers

NM_003870.4

p.Q1257K

c.3769C>A

1 paper

NM_003870.4

p.F1266L

c.3796T>C

1 paper

NM_003870.4

p.F1266L

c.3798C>A

1 paper

NM_003870.4

p.F1266L

c.3798C>G

1 paper

NM_003870.4

p.T1291A

c.3871A>G

1 paper

NM_003870.4

p.H1172Q

c.3516T>A