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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF157

Variant:p.G30fs

RNF157

17q25.1 (UCSC)OMIM GTEx

41 papers

Pfam Domains

RNF157-like_Naa 88–248UCSCRNF157-like N-terminal domain

zf-C3HC4_3aa 273–322UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 157

HGNC Alias Symbol

KIAA1917

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr17:76212482 TC>N

NM_052916.3

p.G30fs

c.88_89fs

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

chr17:76212426 G>A

NM_052916.3

p.P49S

c.145C>T

exact variant not in gnomAD6 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."