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

1–12 of 111 variants

3 papers

NM_017610.8

p.N9K

c.27C>A

3 papers

NM_017610.8

p.N9K

c.27C>G

2 papers

NM_017610.8

p.E272_G273del1

c.816_818delAGG

2 papers

NM_017610.8

p.I296M

c.888T>G

2 papers

NM_017610.8

p.S441*

c.1322C>A

2 papers

NM_017610.8

p.S441*

c.1322C>G

2 papers

NM_017610.8

p.P486T

c.1456C>A

2 papers

NM_017610.8

p.Q605*

c.1813C>T

2 papers

NM_017610.8

p.R904S

c.2712A>C

2 papers

NM_017610.8

p.R904S

c.2712A>T

1 paper

NM_017610.8

p.M1I

c.3G>A

1 paper

NM_017610.8

p.Y8F

c.23A>T