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.L333P

c.998T>C

Surrounding Variants

2 papers

NM_022064.5

p.R329H

c.986G>A

1 paper

NM_022064.5

p.P351S

c.1051C>T

1 paper

NM_022064.5

p.Q355fs

c.1063_1064fs

1 paper

NM_022064.5

p.Q355delFs

c.1064_1065delAG

1 paper

NM_022064.5

p.E370_D371Splc

c.1111-14A>G

3 papers

NM_022064.5

p.R387Q

c.1160G>A

1 paper

NM_022064.5

p.L388Q

c.1163T>A

3 papers

NM_022064.5

p.R406W

c.1216C>T

1 paper

NM_022064.5

p.R418H

c.1253G>A

1 paper

NM_022064.5

p.V313D

c.938T>A

1 paper

NM_022064.5

p.R308W

c.922C>T

1 paper

NM_022064.5

p.R296W

c.886C>T