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.L849insFs

c.2546_2547insC

Surrounding Variants

1 paper

NM_017610.8

p.P836S

c.2506C>T

1 paper

NM_017610.8

p.H832Y

c.2494C>T

1 paper

NM_017610.8

p.A818_T820del3

c.2452_2459del9

1 paper

NM_017610.8

p.V816_A818del3

c.2446_2453del9

1 paper

NM_017610.8

p.L810L

c.2428C>T

1 paper

NM_017610.8

p.Q793delins

c.2377_2378delinsAT

1 paper

NM_017610.8

p.H787Y

c.2359C>T

1 paper

NM_017610.8

p.R771fs

c.2311_2312fs

1 paper

NM_017610.8

p.R861H

c.2582G>A

1 paper

NM_017610.8

p.M754V

c.2260A>G

1 paper

NM_017610.8

p.H733Y

c.2197C>T

1 paper

NM_017610.8

p.Q722*

c.2164C>T