Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.L334F

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.L334F
c.1002A>T
Surrounding Variants
1 paper
NM_001253697.2
p.L334F
c.1002A>C
1 paper
NM_001253697.2
p.E340del1
c.1018_1019delGAG
1 paper
NM_001253697.2
p.F327V
c.979T>G
1 paper
NM_001253697.2
p.Q320L
c.959A>T
1 paper
NM_001253697.2
p.S316*
c.947C>A
1 paper
NM_001253697.2
p.S316*
c.947C>G
3 papers
NM_001253697.2
p.P315L
c.944C>T
1 paper
NM_001253697.2
p.E310K
c.928G>A
1 paper
NM_001253697.2
p.L304V
c.910C>G
1 paper
NM_001253697.2
p.S354F
c.1061C>T
1 paper
NM_001253697.2
p.L357H
c.1070T>A
7 papers
NM_001253697.2
p.E358K
c.1072G>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."