Varaico: Literature-Extracted Genetic Variants

Gene:ABI1
Variant:p.H122Y

ABI1

82 papers

RefSeq Summary

This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polym...

Pfam Domains

ABIaa 5–79UCSCAbl interactor protein
Abi_HHRaa 93–170UCSCAbl-interactor HHR
SH3_1aa 452–497UCSCSH3 domain

Gene Aliases

HGNC Name

abl interactor 1

HGNC Previous Symbol

SSH3BP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012750.3
p.H122Y
c.364C>T
Surrounding Variants
1 paper
NM_001012750.3
p.R120G
c.358A>G
1 paper
NM_001012750.3
p.N117K
c.351T>G
1 paper
NM_001012750.3
p.N117K
c.351T>A
1 paper
NM_001012750.3
p.I111del1
c.331_333delAAT
3 papers
NM_001012750.3
p.R106*
c.316C>T
NM_001178116.2
p.R123*
c.367C>T
1 paper
NM_001012750.3
p.R138L
c.413G>T
2 papers
NM_001012750.3
p.R138Q
c.413G>A
2 papers
NM_001012750.3
p.A105T
c.313G>A
1 paper
NM_001012750.3
p.T144T
c.432A>G
2 papers
NM_001012750.3
p.V145I
c.433G>A
1 paper
NM_001012750.3
p.D98G
c.293A>G
1 paper
NM_001012750.3
p.T96S
c.287C>G
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