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

7 papers

NM_207111.4

p.Q302*

c.904C>T

Surrounding Variants

1 paper

NM_207111.4

p.Q302K

c.904C>A

1 paper

NM_207111.4

p.E300K

c.898G>A

1 paper

NM_207111.4

p.P295P

c.885T>C

1 paper

NM_207111.4

p.G283W

c.847G>T

1 paper

NM_207111.4

p.P277L

c.830C>T

1 paper

NM_207111.4

p.N327I

c.980A>T

1 paper

NM_207111.4

p.P275A

c.823C>G

1 paper

NM_207111.4

p.L264*

c.791T>A

1 paper

NM_207111.4

p.R262delFs

c.785delC

3 papers

NM_207111.4

p.R262H

c.785G>A

3 papers

NM_207111.4

p.V249F

c.745G>T

1 paper

NM_207111.4

p.R243H

c.728G>A