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.Y601delFs

c.1801delA

Surrounding Variants

8 papers

NM_207111.4

p.C597*

c.1791T>A

1 paper

NM_207111.4

p.F607delFs

c.1820_1821delAA

1 paper

NM_207111.4

p.H591_L592insTG

c.1771_1775ins6

1 paper

NM_207111.4

p.T585M

c.1754C>T

3 papers

NM_207111.4

p.R573C

c.1717C>T

1 paper

NM_207111.4

p.L569_I570del0

c.1705_1710del6

1 paper

NM_207111.4

p.K565N

c.1695G>T

1 paper

NM_207111.4

p.K565N

c.1695G>C

3 papers

NM_207111.4

p.M617V

c.1849A>G

1 paper

NM_207111.4

p.S615_C616del2

c.1843_1847del6

1 paper

NM_207111.4

p.S620_C621insFs

c.1860_1861dupCT

1 paper

NM_207111.4

p.F625S

c.1874T>C