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

Selected Variant

1 paper

NM_015436.4

p.N139S

c.416A>G

Surrounding Variants

1 paper

NM_015436.4

p.C145S

c.433T>A

1 paper

NM_015436.4

p.C145S

c.434G>C

1 paper

NM_015436.4

p.C148S

c.442T>A

1 paper

NM_015436.4

p.C148S

c.443G>C

1 paper

NM_015436.4

p.C164S

c.490T>A

1 paper

NM_015436.4

p.C164S

c.491G>C

1 paper

NM_015436.4

p.T171A

c.511A>G

1 paper

NM_015436.4

p.E174A

c.521A>C

2 papers

NM_015436.4

p.A190V

c.569C>T

1 paper

NM_015436.4

p.E203Q

c.607G>C

1 paper

NM_015436.4

p.D219_I220Splc

c.657+69G>C

1 paper

NM_015436.4

p.H134Y

c.400C>T