Varaico: Literature-Extracted Genetic Variants

RCHY1

42 papers

RefSeq Summary

The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase ...

Pfam Domains

zf-CHYaa 20–85UCSCCHY zinc finger

zf-RING_2aa 143–187UCSCRing finger domain

zinc_ribbon_6aa 191–249UCSCZinc-ribbon

Gene Aliases

HGNC Name

ring finger and CHY zinc finger domain containing 1

HGNC Previous Symbol

ZNF363

Papers

RefSeq ID

Protein change

DNA change

1–12 of 31 variants

2 papers

NM_015436.4

p.R54H

c.161G>A

2 papers

NM_015436.4

p.A190V

c.569C>T

1 paper

NM_015436.4

p.A3A

c.9G>A

1 paper

NM_015436.4

p.G9A

c.26G>C

1 paper

NM_015436.4

p.G12G

c.36T>C

1 paper

NM_015436.4

p.E14K

c.40G>A

1 paper

NM_015436.4

p.P32P

c.96T>G

1 paper

NM_015436.4

p.L37L

c.111T>C

1 paper

NM_015436.4

p.N47S

c.140A>G

1 paper

NM_015436.4

p.H50N

c.148C>A

1 paper

NM_015436.4

p.Q61*

c.181C>T

1 paper

NM_015436.4

p.C62*

c.186C>A