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.P4608S

c.13822C>T

Surrounding Variants

1 paper

NM_001256071.3

p.P4612L

c.13835C>T

1 paper

NM_001256071.3

p.I4604del1

c.13810_13811delATC

1 paper

NM_001256071.3

p.I4602_I4604del0

c.13804_13812del9

14 papers

NM_001256071.3

p.L4631V

c.13891C>G

1 paper

NM_001256071.3

p.H4633H

c.13899C>T

5 papers

NM_001256071.3

p.D4636N

c.13906G>A

1 paper

NM_001256071.3

p.E4637K

c.13909G>A

2 papers

NM_001256071.3

p.T4638I

c.13913C>T

3 papers

NM_001256071.3

p.G4640S

c.13918G>A

5 papers

NM_001256071.3

p.G4640R

c.13918G>C

1 paper

NM_001256071.3

p.R4648fs

c.13942_13943fs

1 paper

NM_001256071.3

p.R4648delFs

c.13943delG