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

2 papers

NM_001256071.3

p.E4893Q

c.14677G>C

Surrounding Variants

1 paper

NM_001256071.3

p.I4894I

c.14682T>A

1 paper

NM_001256071.3

p.R4889H

c.14666G>A

1 paper

NM_001256071.3

p.R4889C

c.14665C>T

1 paper

NM_001256071.3

p.K4900delFs

c.14700delA

1 paper

NM_001256071.3

p.K4900fs

c.14698_14699fs

1 paper

NM_001256071.3

p.K4900E

c.14698A>G

4 papers

NM_001256071.3

p.V4884I

c.14650G>A

1 paper

NM_001256071.3

p.A4880D

c.14639C>A

1 paper

NM_001256071.3

p.S4907G

c.14719A>G

1 paper

NM_001256071.3

p.R4874Q

c.14621G>A

1 paper

NM_001256071.3

p.R4874W

c.14620C>T

1 paper

NM_001256071.3

p.R4873*

c.14617C>T