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

1–12 of 130 variants

3 papers

NM_022064.5

p.P51R

c.152C>G

3 papers

NM_022064.5

p.R387Q

c.1160G>A

3 papers

NM_022064.5

p.R406W

c.1216C>T

3 papers

NM_022064.5

p.R482Q

c.1445G>A

3 papers

NM_022064.5

p.R1207Q

c.3620G>A

2 papers

NM_022064.5

p.K132N

c.396A>C

2 papers

NM_022064.5

p.K132N

c.396A>T

2 papers

NM_022064.5

p.C152G

c.454T>G

2 papers

NM_022064.5

p.R329H

c.986G>A

2 papers

NM_022064.5

p.R482W

c.1444C>T

2 papers

NM_022064.5

p.K596E

c.1786A>G

2 papers

NM_022064.5

p.R854H

c.2561G>A