Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.M664I

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.M664I
c.1992G>C
Surrounding Variants
1 paper
NM_001253697.2
p.M664I
c.1992G>A
1 paper
NM_001253697.2
p.M664I
c.1992G>T
1 paper
NM_001253697.2
p.P661S
c.1981C>T
1 paper
NM_001253697.2
p.D673G
c.2018A>G
1 paper
NM_001253697.2
p.N654S
c.1961A>G
1 paper
NM_001253697.2
p.S679S
c.2037A>T
1 paper
NM_001253697.2
p.S693C
c.2078C>G
1 paper
NM_001253697.2
p.V626F
c.1876G>T
1 paper
NM_001253697.2
p.P624Q
c.1871C>A
2 papers
NM_001253697.2
p.I621T
c.1862T>C
1 paper
NM_001253697.2
p.S704insFs
c.2111_2112insC
1 paper
NM_001253697.2
p.I711F
c.2131A>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."