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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HOMER1

Variant:p.M1T

HOMER1

5q14.1 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:79512773 A>G

NM_004272.5

p.M1T

c.2T>C

exact variant not in gnomAD82 overlapping SVs

Surrounding Variants

chr5:79512772 C>G

NM_004272.5

p.M1I

c.3G>C

exact variant not in gnomAD82 overlapping SVs

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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."