Varaico: Literature-Extracted Genetic Variants

Gene:HOMER1
Variant:p.S49C

HOMER1

25 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. [provided by RefSeq, Jul 2008].

Pfam Domains

WH1aa 1–107UCSCWH1 domain

Gene Aliases

HGNC Name

homer scaffold protein 1

HGNC Alias Symbols

Ves-1; SYN47; HOMER-1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004272.5
p.S49C
c.145A>T
Surrounding Variants
1 paper
NM_004272.5
p.K54M
c.161A>T
1 paper
NM_004272.5
p.G2Splc
c.6-4G>T
2 papers
NM_004272.5
p.M65I
c.195G>T
1 paper
NM_004272.5
p.M65I
c.195G>C
1 paper
NM_004272.5
p.M65I
c.195G>A
1 paper
NM_004272.5
p.T66T
c.198A>G
3 papers
NM_004272.5
p.S97L
c.290C>T
1 paper
NM_004272.5
p.K98_F99Splc
c.295-1G>A
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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."