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.I224N

c.671T>A

Surrounding Variants

1 paper

NM_003870.4

p.I222F

c.664A>T

1 paper

NM_003870.4

p.D229A

c.686A>C

1 paper

NM_003870.4

p.L217F

c.651A>T

1 paper

NM_003870.4

p.I232fs

c.694_695fs

1 paper

NM_003870.4

p.A234A

c.702C>T

1 paper

NM_003870.4

p.P243R

c.728C>G

1 paper

NM_003870.4

p.N244S

c.731A>G

1 paper

NM_003870.4

p.L247_V248delFs

c.741_742delTG

1 paper

NM_003870.4

p.V248fs

c.742_743fs

1 paper

NM_003870.4

p.V248V

c.744A>G

1 paper

NM_003870.4

p.E252K

c.754G>A

1 paper

NM_003870.4

p.L254L

c.760T>C