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.E207V

c.620A>T

Surrounding Variants

1 paper

NM_207111.4

p.E207D

c.621G>T

1 paper

NM_207111.4

p.E207D

c.621G>C

4 papers

NM_207111.4

p.E205_T206delFs

c.615_616delTC

1 paper

NM_207111.4

p.E205fs

c.613_614fs

1 paper

NM_207111.4

p.G213A

c.638G>C

1 paper

NM_207111.4

p.Q199L

c.596A>T

1 paper

NM_207111.4

p.N198Y

c.592A>T

1 paper

NM_207111.4

p.Q197_N198insFs

c.591_592insTG

1 paper

NM_207111.4

p.D221G

c.662A>G

1 paper

NM_207111.4

p.D227G

c.680A>G

1 paper

NM_207111.4

p.W229*

c.686G>A

1 paper

NM_207111.4

p.W229*

c.687G>A