Varaico: Literature-Extracted Genetic Variants

RNF123

114 papers

RefSeq Summary

The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA in...

Pfam Domains

SPRYaa 134–252UCSCSPRY domain

TPR_RNF123aa 1027–1226UCSCRNF123-like, TPR repeat

zf-C3HC4_3aa 1250–1298UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 123

HGNC Alias Symbols

FLJ12565; KPC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022064.5

p.M862I

c.2586G>C

Surrounding Variants

1 paper

NM_022064.5

p.M862I

c.2586G>A

1 paper

NM_022064.5

p.M862I

c.2586G>T

2 papers

NM_022064.5

p.R854H

c.2561G>A

1 paper

NM_022064.5

p.R843C

c.2527C>T

1 paper

NM_022064.5

p.S886R

c.2656A>C

1 paper

NM_022064.5

p.S886R

c.2658C>A

1 paper

NM_022064.5

p.S886R

c.2658C>G

2 papers

NM_022064.5

p.Y893*

c.2679T>A

2 papers

NM_022064.5

p.Y893*

c.2679T>G

1 paper

NM_022064.5

p.D910G

c.2729A>G

1 paper

NM_022064.5

p.R919*

c.2755C>T

1 paper

NM_022064.5

p.V930M

c.2788G>A