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.P486T

c.1456C>A

Surrounding Variants

1 paper

NM_017610.8

p.H484N

c.1450C>A

1 paper

NM_017610.8

p.G489E

c.1466G>A

1 paper

NM_017610.8

p.P482T

c.1444C>A

1 paper

NM_017610.8

p.P478S

c.1432C>T

1 paper

NM_017610.8

p.H494Y

c.1480C>T

1 paper

NM_017610.8

p.Q506*

c.1516C>T

1 paper

NM_017610.8

p.A465S

c.1393G>T

1 paper

NM_017610.8

p.G556A

c.1667G>C

1 paper

NM_017610.8

p.E561*

c.1681G>T

1 paper

NM_017610.8

p.S453C

c.1358C>G

1 paper

NM_017610.8

p.N447S

c.1340A>G

2 papers

NM_017610.8

p.S441*

c.1322C>A