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

19 papers

NM_001256071.3

p.D4863N

c.14587G>A

Surrounding Variants

1 paper

NM_001256071.3

p.D4863H

c.14587G>C

1 paper

NM_001256071.3

p.T4864T

c.14592T>G

1 paper

NM_001256071.3

p.E4867K

c.14599G>A

1 paper

NM_001256071.3

p.S4857N

c.14570G>A

2 papers

NM_001256071.3

p.C4856R

c.14566T>C

1 paper

NM_001256071.3

p.R4872H

c.14615G>A

1 paper

NM_001256071.3

p.R4873*

c.14617C>T

1 paper

NM_001256071.3

p.R4874W

c.14620C>T

1 paper

NM_001256071.3

p.R4874Q

c.14621G>A

1 paper

NM_001256071.3

p.N4850insFs

c.14548_14549ins8

1 paper

NM_001256071.3

p.N4850fs

c.14548_14549fs

1 paper

NM_001256071.3

p.I4849N

c.14546T>A