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.N447S

c.1340A>G

Surrounding Variants

2 papers

NM_017610.8

p.S441*

c.1322C>A

2 papers

NM_017610.8

p.S441*

c.1322C>G

1 paper

NM_017610.8

p.S453C

c.1358C>G

1 paper

NM_017610.8

p.S441L

c.1322C>T

1 paper

NM_017610.8

p.S435T

c.1303T>A

1 paper

NM_017610.8

p.S423F

c.1268C>T

1 paper

NM_017610.8

p.A422S

c.1264G>T

1 paper

NM_017610.8

p.N413S

c.1238A>G

1 paper

NM_017610.8

p.T407_S408delFs

c.1220_1223del4

1 paper

NM_017610.8

p.T407_S408del2

c.1219_1223del6

1 paper

NM_017610.8

p.E391V

c.1172A>T

1 paper

NM_017610.8

p.E391V

c.1172A>T