Varaico: Literature-Extracted Genetic Variants

Gene:ABI1
Variant:p.D433N

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.D433N
c.1297G>A
Surrounding Variants
1 paper
NM_001012750.3
p.D453A
c.1358A>C
1 paper
NM_001012750.3
p.R463*
c.1387C>T
1 paper
NM_001012750.3
p.A409T
c.1225G>A
1 paper
NM_001178116.2
p.E413A
c.1238A>C
1 paper
NM_001178124.2
p.P285S
c.853C>T
1 paper
NM_001012750.3
p.P374S
c.1120C>T
1 paper
NM_001012750.3
p.P366A
c.1096C>G
1 paper
NM_001012750.3
p.A363D
c.1088C>A
1 paper
NM_001012750.3
p.A363S
c.1087G>T
1 paper
NM_001012750.3
p.I335Fs
c.1003delinsGAFs
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