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.K227Q

c.679A>C

Surrounding Variants

1 paper

NM_017610.8

p.R236_K237delFs

c.706_709del4

1 paper

NM_017610.8

p.K237R

c.710A>G

1 paper

NM_017610.8

p.K238R

c.713A>G

1 paper

NM_017610.8

p.R199K

c.596G>A

1 paper

NM_017610.8

p.P185L

c.554C>T

1 paper

NM_017610.8

p.K183*

c.547A>T

1 paper

NM_017610.8

p.E272_G273del2

c.814_818del6

2 papers

NM_017610.8

p.E272_G273del1

c.816_818delAGG

1 paper

NM_017610.8

p.K173E

c.517A>G

1 paper

NM_017610.8

p.S282R

c.844A>C

1 paper

NM_017610.8

p.S282R

c.846T>A

1 paper

NM_017610.8

p.S282R

c.846T>G