Varaico: Literature-Extracted Genetic Variants

Gene:HOMER2
Variant:p.V169A

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
1 paper
NM_004839.4
p.V169A
c.506T>C
Surrounding Variants
1 paper
NM_004839.4
p.A167T
c.499G>A
1 paper
NM_004839.4
p.R180W
c.538C>T
7 papers
NM_004839.4
p.R185P
c.554G>C
NM_199330.3
p.R196P
c.587G>C
4 papers
NM_199330.3
p.T198_T199del0
c.592_597del6
NM_004839.4
p.T187_T188del0
c.559_564del6
1 paper
NM_004839.4
p.S193*
c.578C>A
4 papers
NM_004839.4
p.S196T
c.587G>C
1 paper
NM_004839.4
p.E198_Q199del0
c.592_597del6
1 paper
NM_004839.4
p.K201N
c.603G>T
1 paper
NM_004839.4
p.K201N
c.603G>C
1 paper
NM_004839.4
p.R208H
c.623G>A
1 paper
NM_004839.4
p.K217fs
c.649_650fs
1 paper
NM_004839.4
p.K217_I218Splc
c.651+9G>A
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