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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C1orf21

Variant:p.E116*

C1orf21

1q25.3 (UCSC)GTEx

16 papers

Pfam Domains

DUF4612aa 2–118UCSCDomain of unknown function (DUF4612)

Gene Aliases

HGNC Name

chromosome 1 open reading frame 21

HGNC Alias Symbol

PIG13

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr1:184619536 G>T

NM_030806.4

p.E116*

c.346G>T

exact variant not in gnomAD167 overlapping SVs

Surrounding Variants

chr1:184619517 G>T

NM_030806.4

p.K109_G110Splc

c.328-1G>T

exact variant not in gnomAD167 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."