Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.R717C

RNF216

120 papers

RefSeq Summary

This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded pr...

Pfam Domains

RNF216P1aa 9–49UCSCRNF216P1
RNF216_Naa 282–325UCSCE3 ubiquitin-protein ligase RNF216 N-terminal domain
UBA_RNF216aa 356–510UCSCRNF216-like, UBA domain
RING-HC_RBR_RNF216aa 511–605UCSCRNF216 RING finger HC subclass domain
Rcat_RNF216aa 652–736UCSCRNF216 Rcat domain

Gene Aliases

HGNC Name

ring finger protein 216

HGNC Alias Symbols

TRIAD3; UBCE7IP1; ZIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_207111.4
p.R717C
c.2149C>T
Surrounding Variants
1 paper
NM_207111.4
p.S719A
c.2155T>G
1 paper
NM_207111.4
p.D712_D713del2
c.2134_2138del6
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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."