Varaico: Literature-Extracted Genetic Variants

CHFR

50 papers

RefSeq Summary

This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle...

Pfam Domains

FHAaa 38–106UCSCFHA domain

zf-C3HC4_2aa 303–342UCSCZinc finger, C3HC4 type (RING finger)

zf-CRDaa 463–620UCSCCysteine rich domain with multizinc binding regions

Gene Aliases

HGNC Name

checkpoint with forkhead and ring finger domains

HGNC Alias Symbols

FLJ10796; RNF196

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

2 papers

NM_018223.2

p.P138L

c.413C>T

2 papers

NM_001161346.2

p.S404N

c.1211G>A

2 papers

NM_018223.2

p.V539M

c.1615G>A

1 paper

NM_001161346.2

p.M1K

c.2T>A

1 paper

NM_001161346.2

p.S10T

c.28T>A

1 paper

NM_001161346.2

p.L33R

c.98T>G

1 paper

NM_001161346.2

p.T39A

c.115A>G

1 paper

NM_001161346.2

p.R42P

c.125G>C

1 paper

NM_001161346.2

p.S49F

c.146C>T

1 paper

NM_001161346.2

p.S52insFs

c.154dupA

1 paper

NM_001161346.2

p.D66Y

c.196G>T

1 paper

NM_001161346.2

p.D76N

c.226G>A