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.R560W

c.1678C>T

Surrounding Variants

1 paper

NM_022064.5

p.V555F

c.1663G>T

1 paper

NM_022064.5

p.R566C

c.1696C>T

1 paper

NM_022064.5

p.E552G

c.1655A>G

1 paper

NM_022064.5

p.A574D

c.1721C>A

1 paper

NM_022064.5

p.I526I

c.1578C>T

1 paper

NM_022064.5

p.E521K

c.1561G>A

1 paper

NM_022064.5

p.Q506H

c.1518G>C

1 paper

NM_022064.5

p.Q506H

c.1518G>T

1 paper

NM_022064.5

p.R496H

c.1487G>A

2 papers

NM_022064.5

p.K596E

c.1786A>G

1 paper

NM_022064.5

p.R483Q

c.1448G>A

3 papers

NM_022064.5

p.R482Q

c.1445G>A