Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.Q402_S403Splc

ERBIN

229 papers

RefSeq Summary

This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB...

Pfam Domains

LRR_8aa 46–104UCSCLeucine rich repeat
LRR_8aa 345–402UCSCLeucine rich repeat
PDZaa 1321–1407UCSCPDZ domain

Gene Aliases

HGNC Name

erbb2 interacting protein

HGNC Previous Symbol

ERBB2IP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001253697.2
p.Q402_S403Splc
c.1207-4385A>G
Surrounding Variants
1 paper
NM_001253697.2
p.L406L
c.1218G>A
2 papers
NM_001253697.2
p.Q410*
c.1228C>T
1 paper
NM_001253697.2
p.Q418*
c.1252C>T
1 paper
NM_001253697.2
p.T423I
c.1268C>T
2 papers
NM_001253697.2
p.P431L
c.1292C>T
2 papers
NM_001253697.2
p.D435delFs
c.1303delG
1 paper
NM_001253697.2
p.M396V
c.1186A>G
1 paper
NM_001253697.2
p.T388I
c.1163C>T
1 paper
NM_001253697.2
p.L360P
c.1079T>C
1 paper
NM_001253697.2
p.T359A
c.1075A>G
7 papers
NM_001253697.2
p.E358K
c.1072G>A
1 paper
NM_001253697.2
p.L357H
c.1070T>A
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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."