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.S652F

c.1955C>T

Surrounding Variants

1 paper

NM_017610.8

p.A651V

c.1952C>T

1 paper

NM_017610.8

p.P678P

c.2034G>A

1 paper

NM_017610.8

p.S697F

c.2090C>T

1 paper

NM_017610.8

p.S698delFs

c.2092delT

1 paper

NM_017610.8

p.H703Y

c.2107C>T

1 paper

NM_017610.8

p.V705_P708del0

c.2114_2122del9

1 paper

NM_017610.8

p.A706_P709del4

c.2116_2126del12

1 paper

NM_017610.8

p.A706_P709del0

c.2117_2125del9

1 paper

NM_017610.8

p.Q722*

c.2164C>T

1 paper

NM_017610.8

p.H733Y

c.2197C>T

1 paper

NM_017610.8

p.M754V

c.2260A>G

1 paper

NM_017610.8

p.R771fs

c.2311_2312fs