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

1–12 of 128 variants

10 papers

NM_207111.4

p.R751C

c.2251C>T

8 papers

NM_207111.4

p.G456E

c.1367G>A

8 papers

NM_207111.4

p.C597*

c.1791T>A

8 papers

NM_207111.4

p.R717C

c.2149C>T

7 papers

NM_207111.4

p.Q241*

c.721C>T

7 papers

NM_207111.4

p.Q302*

c.904C>T

7 papers

NM_207111.4

p.Y539C

c.1616A>G

6 papers

NM_207111.4

p.R686*

c.2056C>T

5 papers

NM_207111.4

p.E650*

c.1948G>T

5 papers

NM_207111.4

p.K687K

c.2061G>A

4 papers

NM_207111.4

p.G138delFs

c.414delC

4 papers

NM_207111.4

p.E205_T206delFs

c.615_616delTC