Varaico: Literature-Extracted Genetic Variants

RNF213

737 papers

RefSeq Summary

This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein...

Pfam Domains

zf-C3HC4aa 4046–4084UCSCZinc finger, C3HC4 type (RING finger)

ZnF_RZ-typeaa 4539–4594UCSCRZ type zinc finger domain

Gene Aliases

HGNC Name

ring finger protein 213

HGNC Previous Symbols

C17orf27; KIAA1618; MYMY2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001256071.3

p.W4024R

c.12070T>A

Surrounding Variants

7 papers

NM_001256071.3

p.W4024R

c.12070T>C

1 paper

NM_001256071.3

p.A4026T

c.12076G>A

1 paper

NM_001256071.3

p.L4021F

c.12061C>T

2 papers

NM_001256071.3

p.C4020Y

c.12059G>A

1 paper

NM_001256071.3

p.C4020F

c.12059G>T

1 paper

NM_001256071.3

p.E4028*

c.12082G>T

23 papers

NM_001256071.3

p.R4019C

c.12055C>T

1 paper

NM_001256071.3

p.Q4029R

c.12086A>G

1 paper

NM_001256071.3

p.M4030T

c.12089T>C

1 paper

NM_001256071.3

p.C4017Y

c.12050G>A

12 papers

NM_001256071.3

p.C4017S

c.12050G>C

12 papers

NM_001256071.3

p.C4017S

c.12049T>A