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.K4796R

c.14387A>G

Surrounding Variants

2 papers

NM_001256071.3

p.F4798fs

c.14392_14393fs

2 papers

NM_001256071.3

p.F4798delFs

c.14394delC

1 paper

NM_001256071.3

p.V4804L

c.14410G>C

1 paper

NM_001256071.3

p.P4785P

c.14355T>G

6 papers

NM_001256071.3

p.R4810G

c.14428A>G

347 papers

NM_001256071.3

p.R4810K

c.14429G>A

NM_020914.5

p.R4859K

c.14576G>A

3 papers

NM_001256071.3

p.R4810S

c.14430A>C

3 papers

NM_001256071.3

p.R4810S

c.14430A>T

1 paper

NM_020914.5

p.R4828K

c.14483G>A

1 paper

NM_001256071.3

p.D4819Splc

c.14456-3C>T

13 papers

NM_001256071.3

p.R4828K

c.14483G>A

2 papers

NM_001256071.3

p.R4828R

c.14484G>A