Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_207111.4

p.T791A

c.2371A>G

Surrounding Variants

3 papers

NM_207111.4

p.D792N

c.2374G>A

1 paper

NM_207111.4

p.Q755P

c.2264A>C

10 papers

NM_207111.4

p.R751C

c.2251C>T

1 paper

NM_207111.4

p.C745*

c.2235C>A

1 paper

NM_207111.4

p.R728delFs

c.2184delG

1 paper

NM_207111.4

p.A726T

c.2176G>A