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

1 paper

NM_001161346.2

p.A494T

c.1480G>A

Surrounding Variants

1 paper

NM_001161346.2

p.Q497*

c.1489C>T

1 paper

NM_001161346.2

p.E488K

c.1462G>A

1 paper

NM_018223.2

p.A456V

c.1367C>T

1 paper

NM_001161346.2

p.R484K

c.1451G>A

1 paper

NM_001161346.2

p.F477L

c.1429T>C

1 paper

NM_001161346.2

p.T456M

c.1367C>T

1 paper

NM_001161346.2

p.A427T

c.1279G>A

1 paper

NM_001161346.2

p.V414I

c.1240G>A

1 paper

NM_001161346.2

p.Q503H

c.1509G>T

1 paper

NM_001161346.2

p.F524L

c.1570T>C

1 paper

NM_001161346.2

p.F524L

c.1572T>G

1 paper

NM_001161346.2

p.F524L

c.1572T>A