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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RGS22

Variant:p.L38R

RGS22

8q22.2 (UCSC)OMIM GTEx

60 papers

Pfam Domains

RGSaa 665–782UCSCRegulator of G protein signaling domain

RGSaa 852–978UCSCRegulator of G protein signaling domain

RGSaa 1021–1136UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 22

HGNC Alias Symbols

DKFZP434I092; PRTD-NY2; CT145

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:100093451 A>C

NM_015668.5

p.L38R

c.113T>G

exact variant not in gnomAD29 overlapping SVs

Surrounding Variants

chr8:100093508 T>TGTGACTGTTGCAG

NM_015668.5

p.E19insFs

c.56_57ins13

exact variant not in gnomAD29 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."