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.M1283I

c.3849G>C

Surrounding Variants

1 paper

NM_022064.5

p.M1283I

c.3849G>A

1 paper

NM_022064.5

p.M1283I

c.3849G>T

1 paper

NM_022064.5

p.S1308I

c.3923G>T

1 paper

NM_022064.5

p.S1311Y

c.3932C>A

1 paper

NM_022064.5

p.S1312L

c.3935C>T

1 paper

NM_022064.5

p.L1246_P1247insFs

c.3738_3739ins4

1 paper

NM_022064.5

p.L1246fs

c.3736_3737fs

1 paper

NM_022064.5

p.Q1240R

c.3719A>G

1 paper

NM_022064.5

p.A1232A

c.3696G>A

1 paper

NM_022064.5

p.Y1218C

c.3653A>G

1 paper

NM_022064.5

p.Y1215Splc

c.3644-5C>G

3 papers

NM_022064.5

p.R1207Q

c.3620G>A