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

Selected Variant

2 papers

NM_018223.2

p.P138L

c.413C>T

Surrounding Variants

1 paper

NM_001161346.2

p.S220A

c.658T>G

1 paper

NM_001161344.1

p.P255A

c.763C>G

1 paper

NM_018223.2

p.G229R

c.685G>C

1 paper

NM_018223.2

p.G229R

c.685G>A

1 paper

NM_018223.2

p.P254P

c.762A>C

1 paper

NM_001161346.2

p.L298L

c.894G>A

2 papers

NM_001161346.2

p.S404N

c.1211G>A

1 paper

NM_001161346.2

p.S180C

c.539C>G

1 paper

NM_001161346.2

p.T169S

c.505A>T

1 paper

NM_001161346.2

p.E161V

c.482A>T

1 paper

NM_001161346.2

p.T156P

c.466A>C

1 paper

NM_001161346.2

p.V414I

c.1240G>A