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

2 papers

NM_017610.8

p.R904S

c.2712A>T

Surrounding Variants

2 papers

NM_017610.8

p.R904S

c.2712A>C

1 paper

NM_017610.8

p.I902T

c.2705T>C

1 paper

NM_017610.8

p.P908S

c.2722C>T

1 paper

NM_017610.8

p.Q899*

c.2695C>T

1 paper

NM_017610.8

p.K915*

c.2743A>T

1 paper

NM_017610.8

p.K915I

c.2744A>T

1 paper

NM_017610.8

p.R861H

c.2582G>A

1 paper

NM_017610.8

p.C934Y

c.2801G>A

1 paper

NM_017610.8

p.C971S

c.2911T>A

1 paper

NM_017610.8

p.C971S

c.2912G>C

1 paper

NM_017610.8

p.L849insFs

c.2546_2547insC

1 paper

NM_017610.8

p.P836S

c.2506C>T