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

2 papers

NM_022064.5

p.K132N

c.396A>T

Surrounding Variants

2 papers

NM_022064.5

p.K132N

c.396A>C

1 paper

NM_022064.5

p.T123I

c.368C>T

2 papers

NM_022064.5

p.C152G

c.454T>G

1 paper

NM_022064.5

p.S92S

c.276C>G

1 paper

NM_022064.5

p.K190_A191Splc

c.570+1G>C

1 paper

NM_022064.5

p.L59V

c.175C>G

1 paper

NM_022064.5

p.A191G

c.572C>G

1 paper

NM_022064.5

p.S240fs

c.718_719fs

1 paper

NM_022064.5

p.K242R

c.725A>G

1 paper

NM_022064.5

p.G250V

c.749G>T

1 paper

NM_022064.5

p.R255C

c.763C>T

1 paper

NM_022064.5

p.Y256C

c.767A>G