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

3 papers

NM_022064.5

p.P51R

c.152C>G

Surrounding Variants

1 paper

NM_022064.5

p.P50S

c.148C>T

1 paper

NM_022064.5

p.E32G

c.95A>G

1 paper

NM_022064.5

p.Y15C

c.44A>G

1 paper

NM_022064.5

p.K13M

c.38A>T

1 paper

NM_022064.5

p.M8V

c.22A>G

1 paper

NM_022064.5

p.G7S

c.19G>A

1 paper

NM_022064.5

p.K4E

c.10A>G

1 paper

NM_022064.5

p.L59V

c.175C>G

1 paper

NM_022064.5

p.S92S

c.276C>G

1 paper

NM_022064.5

p.T123I

c.368C>T

2 papers

NM_022064.5

p.K132N

c.396A>C

2 papers

NM_022064.5

p.K132N

c.396A>T