Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.R1064Q

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.R1064Q
c.3191G>A
Surrounding Variants
1 paper
NM_001253697.2
p.R1064L
c.3191G>T
1 paper
NM_001253697.2
p.T1070A
c.3208A>G
1 paper
NM_001253697.2
p.E1055fs
c.3163_3164fs
1 paper
NM_001253697.2
p.E1055delFs
c.3163delG
1 paper
NM_001253697.2
p.R1076Q
c.3227G>A
1 paper
NM_001253697.2
p.R1076L
c.3227G>T
2 papers
NM_001253697.2
p.R1076R
c.3228A>G
1 paper
NM_001253697.2
p.S1081A
c.3241T>G
1 paper
NM_001253697.2
p.S1081C
c.3242C>G
2 papers
NM_001253697.2
p.H1045Y
c.3133C>T
1 paper
NM_001253697.2
p.N1087S
c.3260A>G
1 paper
NM_001253697.2
p.N1035S
c.3104A>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."