Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.K914M

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.K914M
c.2741A>T
Surrounding Variants
1 paper
NM_001253697.2
p.K914R
c.2741A>G
1 paper
NM_001253697.2
p.Y920C
c.2759A>G
1 paper
NM_001253697.2
p.D906Y
c.2716G>T
1 paper
NM_001253697.2
p.D935N
c.2803G>A
1 paper
NM_001253697.2
p.I883fs
c.2647_2648fs
1 paper
NM_001253697.2
p.K945N
c.2835G>C
1 paper
NM_001253697.2
p.K945N
c.2835G>T
1 paper
NM_001253697.2
p.I883delFs
c.2647delA
1 paper
NM_001253697.2
p.N951D
c.2851A>G
1 paper
NM_001253697.2
p.M876R
c.2627T>G
1 paper
NM_001253697.2
p.Q966Q
c.2898A>G
1 paper
NM_001253697.2
p.S967C
c.2900C>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."