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.D388N

c.1162G>A

Surrounding Variants

1 paper

NM_017610.8

p.E389*

c.1165G>T

1 paper

NM_017610.8

p.T386S

c.1157C>G

1 paper

NM_017610.8

p.T386S

c.1156A>T

1 paper

NM_017610.8

p.L385I

c.1153C>A

1 paper

NM_017610.8

p.E391V

c.1172A>T

1 paper

NM_017610.8

p.D384E

c.1152C>A

1 paper

NM_017610.8

p.D384E

c.1152C>G

1 paper

NM_017610.8

p.D384N

c.1150G>A

1 paper

NM_017610.8

p.V383L

c.1147G>C

1 paper

NM_017610.8

p.V383L

c.1147G>T

1 paper

NM_017610.8

p.H347Y

c.1039C>T

1 paper

NM_017610.8

p.E391V

c.1172A>T