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.R92W

c.274A>T

Surrounding Variants

1 paper

NM_017610.8

p.V91delFs

c.272_273delTG

1 paper

NM_017610.8

p.M78I

c.234G>A

1 paper

NM_017610.8

p.M78I

c.234G>C

1 paper

NM_017610.8

p.M78I

c.234G>T

1 paper

NM_017610.8

p.D70Y

c.208G>T

1 paper

NM_017610.8

p.P50_A51delFs

c.150_153del4

1 paper

NM_017610.8

p.D136delFs

c.407_408delAT

1 paper

NM_017610.8

p.I36F

c.106A>T

1 paper

NM_017610.8

p.S150_V153del4

c.448_458del12

1 paper

NM_017610.8

p.K173E

c.517A>G

3 papers

NM_017610.8

p.N9K

c.27C>A

3 papers

NM_017610.8

p.N9K

c.27C>G