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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RGL1

Variant:p.E48G

RGL1

1q25.3 (UCSC)OMIM GTEx

43 papers

Pfam Domains

RasGEF_Naa 68–174UCSCRasGEF N-terminal motif

RasGEFaa 235–449UCSCRasGEF domain

RAaa 648–735UCSCRas association (RalGDS/AF-6) domain

Gene Aliases

HGNC Name

ral guanine nucleotide dissociation stimulator like 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr1:183847570 A>G

NM_001297671.3

p.E48G

c.143A>G

exact variant not in gnomAD166 overlapping SVs

Surrounding Variants

chr1:183847607 A>T

NM_001297671.3

p.Q60H

c.180A>T

exact variant not in gnomAD166 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."