Varaico: Literature-Extracted Genetic Variants

Gene:ERBIN
Variant:p.S704insFs

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.S704insFs
c.2111_2112insC
Surrounding Variants
1 paper
NM_001253697.2
p.I711F
c.2131A>T
1 paper
NM_001253697.2
p.A722D
c.2165C>A
1 paper
NM_001253697.2
p.D727G
c.2180A>G
1 paper
NM_001253697.2
p.T751P
c.2251A>C
1 paper
NM_001253697.2
p.K759R
c.2276A>G
3 papers
NM_001253697.2
p.E805G
c.2414A>G
1 paper
NM_001253697.2
p.G810R
c.2428G>A
1 paper
NM_001253697.2
p.G810R
c.2428G>C
1 paper
NM_001253697.2
p.P814S
c.2440C>T
1 paper
NM_001253697.2
p.S818F
c.2453C>T
1 paper
NM_001253697.2
p.V819I
c.2455G>A
1 paper
NM_001253697.2
p.D846G
c.2537A>G
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