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.R733Q

c.2198G>A

Surrounding Variants

1 paper

NM_022064.5

p.R733W

c.2197C>T

1 paper

NM_022064.5

p.L730insFs

c.2189_2190insC

1 paper

NM_022064.5

p.E739G

c.2216A>G

1 paper

NM_022064.5

p.R717H

c.2150G>A

1 paper

NM_022064.5

p.R708H

c.2123G>A

1 paper

NM_022064.5

p.P695L

c.2084C>T

1 paper

NM_022064.5

p.R680Q

c.2039G>A

1 paper

NM_022064.5

p.A658D

c.1973C>A

1 paper

NM_022064.5

p.A652V

c.1955C>T

1 paper

NM_022064.5

p.E643D

c.1929G>C

1 paper

NM_022064.5

p.E643D

c.1929G>T

1 paper

NM_022064.5

p.Q808H

c.2424G>C