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.L4093delFs

c.12277_12278delCT

Surrounding Variants

1 paper

NM_001256071.3

p.L4095del1

c.12283_12284delCTC

1 paper

NM_001256071.3

p.L4095fs

c.12283_12284fs

1 paper

NM_001256071.3

p.E4090K

c.12268G>A

1 paper

NM_001256071.3

p.E4085K

c.12253G>A

1 paper

NM_001256071.3

p.R4102H

c.12305G>A

1 paper

NM_001256071.3

p.N4081N

c.12243C>T

10 papers

NM_001256071.3

p.I4076V

c.12226A>G

5 papers

NM_001256071.3

p.N4066S

c.12197A>G

1 paper

NM_001256071.3

p.N4066_S4067delFs

c.12198_12199delCA

1 paper

NM_001256071.3

p.N4066fs

c.12196_12197fs

1 paper

NM_001256071.3

p.Q4063*

c.12187C>T

29 papers

NM_001256071.3

p.R4062Q

c.12185G>A