Varaico: Literature-Extracted Genetic Variants

RNF111

88 papers

RefSeq Summary

The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting th...

Pfam Domains

RNF111_Naa 18–292UCSCE3 ubiquitin-protein ligase Arkadia N-terminus

zf-RING_2aa 940–983UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 111

HGNC Alias Symbols

Arkadia; FLJ38008; DKFZP761D081

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017610.8

p.Y621C

c.1862A>G

Surrounding Variants

1 paper

NM_017610.8

p.Y621H

c.1861T>C

1 paper

NM_017610.8

p.S617*

c.1850C>A

1 paper

NM_017610.8

p.S617*

c.1850C>G

1 paper

NM_017610.8

p.S616*

c.1847C>A

1 paper

NM_017610.8

p.S616*

c.1847C>G

1 paper

NM_017610.8

p.Q632P

c.1895A>C

2 papers

NM_017610.8

p.Q605*

c.1813C>T

1 paper

NM_017610.8

p.R598*

c.1792C>T

1 paper

NM_017610.8

p.P648P

c.1944C>G

1 paper

NM_017610.8

p.A651V

c.1952C>T

1 paper

NM_017610.8

p.S652F

c.1955C>T

1 paper

NM_017610.8

p.P678P

c.2034G>A