Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.R5Q

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
2 papers
NM_001253697.2
p.R5Q
c.14G>A
Surrounding Variants
1 paper
NM_001253697.2
p.R5_S6insFs
c.15_16insCC
1 paper
NM_001253697.2
p.S6N
c.17G>A
1 paper
NM_001253697.2
p.T2S
c.5C>G
1 paper
NM_001253697.2
p.T2S
c.4A>T
1 paper
NM_001253697.2
p.R10insFs
c.28_29insA
1 paper
NM_001253697.2
p.R10W
c.28C>T
1 paper
NM_001253697.2
p.P38S
c.112C>T
1 paper
NM_001253697.2
p.I41V
c.121A>G
1 paper
NM_001253697.2
p.F44_E45delFs
c.131_135del5
1 paper
NM_001253697.2
p.E45*
c.133G>T
1 paper
NM_001253697.2
p.I58I
c.174T>A
1 paper
NM_001253697.2
p.L74R
c.221T>G
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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."