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

34 papers

NM_001256071.3

p.A5021V

c.15062C>T

Surrounding Variants

1 paper

NM_001256071.3

p.V5027V

c.15081C>T

1 paper

NM_001256071.3

p.Q5014R

c.15041A>G

5 papers

NM_001256071.3

p.S5012R

c.15036T>A

5 papers

NM_001256071.3

p.S5012R

c.15036T>G

5 papers

NM_001256071.3

p.S5012R

c.15034A>C

1 paper

NM_001256071.3

p.L5032insFs

c.15095_15096insT

1 paper

NM_001256071.3

p.L5032ins1

c.15095_15096insTGG

1 paper

NM_001256071.3

p.S5006L

c.15017C>T

4 papers

NM_001256071.3

p.T5037I

c.15110C>T

1 paper

NM_001256071.3

p.D5001N

c.15001G>A

1 paper

NM_001256071.3

p.M5044L

c.15130A>C

1 paper

NM_001256071.3

p.M5044L

c.15130A>T