Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN

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
1–12 of 157 variants
9 papers
NM_001253697.2
p.S274L
c.821C>T
7 papers
NM_001253697.2
p.E358K
c.1072G>A
5 papers
NM_001253697.2
p.S1112L
c.3335C>T
4 papers
NM_001253697.2
p.D530Y
c.1588G>T
3 papers
NM_001253697.2
p.P315L
c.944C>T
3 papers
NM_001253697.2
p.V436Splc
c.1307-2A>T
3 papers
NM_001253697.2
p.E805G
c.2414A>G
2 papers
NM_001253697.2
p.R5Q
c.14G>A
2 papers
NM_001253697.2
p.Q410*
c.1228C>T
2 papers
NM_001253697.2
p.P431L
c.1292C>T
2 papers
NM_001253697.2
p.D435delFs
c.1303delG
2 papers
NM_001253697.2
p.I621T
c.1862T>C
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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."