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

29 papers

NM_001256071.3

p.E4950D

c.14850G>T

Surrounding Variants

1 paper

NM_001256071.3

p.E4950E

c.14850G>A

29 papers

NM_001256071.3

p.E4950D

c.14850G>C

9 papers

NM_001256071.3

p.E4950_F4951ins7

c.14848_14852ins21

1 paper

NM_001256071.3

p.V4948M

c.14842G>A

1 paper

NM_001256071.3

p.T4947T

c.14841C>T

1 paper

NM_001256071.3

p.R4958W

c.14872C>T

1 paper

NM_001256071.3

p.Q4959Q

c.14877G>A

1 paper

NM_001256071.3

p.V4941E

c.14822T>A

1 paper

NM_001256071.3

p.V4961I

c.14881G>A

3 papers

NM_001256071.3

p.Q4938R

c.14813A>G

2 papers

NM_001256071.3

p.R4963C

c.14887C>T

1 paper

NM_001256071.3

p.N4936S

c.14807A>G