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.D106G

c.317A>G

Surrounding Variants

1 paper

NM_207111.4

p.R100*

c.298A>T

1 paper

NM_207111.4

p.P96S

c.286C>T

1 paper

NM_207111.4

p.L91F

c.273G>T

1 paper

NM_207111.4

p.L91F

c.273G>C

1 paper

NM_207111.4

p.A123A

c.369A>G

1 paper

NM_207111.4

p.Q84fs

c.250_251fs

1 paper

NM_207111.4

p.A83delFs

c.249delG

1 paper

NM_207111.4

p.A82delFs

c.244delC

1 paper

NM_207111.4

p.D130V

c.389A>T

1 paper

NM_207111.4

p.K80I

c.239A>T

1 paper

NM_207111.4

p.L135L

c.405G>C

4 papers

NM_207111.4

p.G138delFs

c.414delC