Varaico: Literature-Extracted Genetic Variants

Gene:HOMER2
Variant:p.I276V

HOMER2

50 papers

RefSeq Summary

This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density s...

Pfam Domains

WH1aa 1–107UCSCWH1 domain

Gene Aliases

HGNC Name

homer scaffold protein 2

HGNC Alias Symbols

Cupidin; Vesl-2; HOMER-2B; HOMER-2; HOMER-2A; DFNA68

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_199330.3
p.I276V
c.826A>G
Surrounding Variants
1 paper
NM_199330.3
p.P278fs
c.832_833fs
1 paper
NM_004839.4
p.P267T
c.799C>A
3 papers
NM_199330.3
p.P278_Q279delFs
c.832_836del5
NM_004839.4
p.P267_Q268delFs
c.799_803del5
1 paper
NM_199330.3
p.M281fs
c.841_842fs
5 papers
NM_199330.3
p.L280insFs
c.840dupC
NM_004839.4
p.L269insFs
c.807dupC
2 papers
NM_004839.4
p.E255G
c.764A>G
2 papers
NM_004839.4
p.L280_E281insFs
c.840_841insC
2 papers
NM_004839.4
p.L280insFs
c.840dupA
1 paper
NM_004839.4
p.T236M
c.707C>T
1 paper
NM_004839.4
p.S226N
c.677G>A
1 paper
NM_004839.4
p.L297L
c.891A>G
1 paper
NM_004839.4
p.E302fs
c.904_905fs
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