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

2 papers

NM_001256071.3

p.E4395_Q4396Splc

c.13186-13T>C

Surrounding Variants

1 paper

NM_001256071.3

p.C4397R

c.13189T>C

42 papers

NM_001256071.3

p.A4399T

c.13195G>A

NM_020914.5

p.A4448T

c.13342G>A

1 paper

NM_001256071.3

p.A4399P

c.13195G>C

1 paper

NM_001256071.3

p.S4416S

c.13248C>T

1 paper

NM_001256071.3

p.R4417C

c.13249C>T

1 paper

NM_001256071.3

p.R4417H

c.13250G>A

1 paper

NM_001256071.3

p.G4433E

c.13298G>A

1 paper

NM_001256071.3

p.N4438D

c.13312A>G

1 paper

NM_001256071.3

p.D4440N

c.13318G>A

1 paper

NM_001256071.3

p.G4441delFs

c.13322delG

1 paper

NM_001256071.3

p.G4441fs

c.13321_13322fs

1 paper

NM_001256071.3

p.V4453I

c.13357G>A