Varaico: Literature-Extracted Genetic Variants

Gene:ABI1

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
1–12 of 64 variants
2 papers
NM_001012750.3
p.A105T
c.313G>A
2 papers
NM_001012750.3
p.R106*
c.316C>T
2 papers
NM_001012750.3
p.R138Q
c.413G>A
2 papers
NM_001012750.3
p.V145I
c.433G>A
2 papers
NM_001012750.3
p.S282Y
c.845C>A
1 paper
NM_001012750.3
p.M1_A2insFs
c.3_4insA
1 paper
NM_001012750.3
p.P13T
c.37C>A
1 paper
NM_001012750.3
p.S22fs
c.64_65fs
1 paper
NM_001012750.3
p.S22delFs
c.64_65delCT
1 paper
NM_001012750.3
p.T27N
c.80C>A
1 paper
NM_001012750.3
p.Y32C
c.95A>G
1 paper
NM_001012750.3
p.N36N
c.108C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."