Varaico: Literature-Extracted Genetic Variants

Gene:ABI1
Variant:p.N331_I333del0

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.N331_I333del0
c.992_997del6
Surrounding Variants
1 paper
NM_001012750.3
p.S329F
c.986C>T
1 paper
NM_001012750.3
p.G325S
c.973G>A
1 paper
NM_001012750.3
p.S299Y
c.896C>A
1 paper
NM_001012750.3
p.R293Q
c.878G>A
2 papers
NM_001012750.3
p.S282Y
c.845C>A
1 paper
NM_001012750.3
p.P280S
c.838C>T
1 paper
NM_001012750.3
p.A275S
c.823G>T
1 paper
NM_001012750.3
p.I335Fs
c.1003delinsGAFs
1 paper
NM_001012750.3
p.G272_A274del0
c.815_820del6
1 paper
NM_001012750.3
p.N251K
c.753C>G
1 paper
NM_001012750.3
p.N251K
c.753C>A
1 paper
NM_001012750.3
p.G245*
c.733G>T
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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."