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

2 papers

NM_207111.4

p.Y494*

c.1482C>G

Surrounding Variants

2 papers

NM_207111.4

p.Y494*

c.1482C>A

1 paper

NM_207111.4

p.S493T

c.1477T>A

1 paper

NM_207111.4

p.F497I

c.1489T>A

1 paper

NM_207111.4

p.F497insFs

c.1491dupC

1 paper

NM_207111.4

p.R483S

c.1449G>T

1 paper

NM_207111.4

p.R483S

c.1449G>C

1 paper

NM_207111.4

p.K470T

c.1409A>C

1 paper

NM_207111.4

p.K470*

c.1408A>T

1 paper

NM_207111.4

p.L465W

c.1394T>G

1 paper

NM_207111.4

p.A464A

c.1392C>A

8 papers

NM_207111.4

p.G456E

c.1367G>A

1 paper

NM_207111.4

p.K440K

c.1320A>G