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.F625S

c.1874T>C

Surrounding Variants

1 paper

NM_207111.4

p.S620_C621insFs

c.1860_1861dupCT

1 paper

NM_207111.4

p.V633M

c.1897G>A

1 paper

NM_207111.4

p.S615_C616del2

c.1843_1847del6

3 papers

NM_207111.4

p.M617V

c.1849A>G

2 papers

NM_207111.4

p.R645Q

c.1934G>A

5 papers

NM_207111.4

p.E650*

c.1948G>T

3 papers

NM_207111.4

p.P663L

c.1988C>T

NM_207116.3

p.P606L

c.1817C>T

1 paper

NM_207111.4

p.P681L

c.2042C>T

6 papers

NM_207111.4

p.R686*

c.2056C>T

5 papers

NM_207111.4

p.K687K

c.2061G>A

4 papers

NM_207111.4

p.K687_E688Splc

c.2061+3A>G

1 paper

NM_207111.4

p.F607delFs

c.1820_1821delAA