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.S3998S

c.11994C>T

Surrounding Variants

2 papers

NM_001256071.3

p.I3999M

c.11997C>G

28 papers

NM_001256071.3

p.C3997Y

c.11990G>A

1 paper

NM_001256071.3

p.C4000R

c.11998T>C

1 paper

NM_001256071.3

p.C3997G

c.11989T>G

2 papers

NM_001256071.3

p.P3996_C3997delins

c.11986_11989delinsGGGTTAG

1 paper

NM_001256071.3

p.P3996_C3997delFs

c.11986_11989del4

1 paper

NM_001256071.3

p.G4002E

c.12005G>A

21 papers

NM_001256071.3

p.P4007R

c.12020C>G

1 paper

NM_001256071.3

p.L4010V

c.12028C>G

1 paper

NM_001256071.3

p.C4012C

c.12036C>T

40 papers

NM_001256071.3

p.D4013N

c.12037G>A

1 paper

NM_001256071.3

p.D4013A

c.12038A>C