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

1 paper

NM_001256071.3

p.P4040S

c.12118C>T

Surrounding Variants

1 paper

NM_001256071.3

p.P4040A

c.12118C>G

9 papers

NM_001256071.3

p.E4042K

c.12124G>A

1 paper

NM_001256071.3

p.L4036V

c.12106T>G

1 paper

NM_001256071.3

p.C4035R

c.12103T>C

7 papers

NM_001256071.3

p.P4033L

c.12098C>T

6 papers

NM_001256071.3

p.C4032R

c.12094T>C

1 paper

NM_001256071.3

p.M4030T

c.12089T>C

5 papers

NM_001256071.3

p.A4050V

c.12149C>T

1 paper

NM_001256071.3

p.Q4029R

c.12086A>G

3 papers

NM_001256071.3

p.H4051P

c.12152A>C

1 paper

NM_001256071.3

p.E4028*

c.12082G>T

1 paper

NM_001256071.3

p.A4026T

c.12076G>A