Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.D547H

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.D547H
c.1639G>C
Surrounding Variants
1 paper
NM_001253697.2
p.T541I
c.1622C>T
1 paper
NM_001253697.2
p.M553R
c.1658T>G
1 paper
NM_001253697.2
p.S538ins1
c.1613_1614insTAC
4 papers
NM_001253697.2
p.D530Y
c.1588G>T
1 paper
NM_001253697.2
p.V498F
c.1492G>T
1 paper
NM_001253697.2
p.P486A
c.1456C>G
1 paper
NM_001253697.2
p.P484S
c.1450C>T
1 paper
NM_001253697.2
p.E477K
c.1429G>A
2 papers
NM_001253697.2
p.I621T
c.1862T>C
1 paper
NM_001253697.2
p.P624Q
c.1871C>A
1 paper
NM_001253697.2
p.V626F
c.1876G>T
1 paper
NM_001253697.2
p.R476_E477Splc
c.1429-159A>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."