Varaico: Literature-Extracted Genetic Variants

ZC3HC1

50 papers

RefSeq Summary

This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires t...

Pfam Domains

zf-C3HCaa 72–201UCSCNuBaID N-terminal domain (aka zf-C3HC)

NuBaID_Caa 248–473UCSCNuBaID, C-terminal domain

NuBaID_Caa 327–430UCSCNuBaID, C-terminal domain

Gene Aliases

HGNC Name

zinc finger C3HC-type containing 1

HGNC Alias Name

nuclear interaction partner of ALK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016478.5

p.F419L

c.1257T>A

Surrounding Variants

1 paper

NM_016478.5

p.F419L

c.1257T>G

1 paper

NM_016478.5

p.F419L

c.1255T>C

1 paper

NM_016478.5

p.D420G

c.1259A>G

1 paper

NM_016478.5

p.C429S

c.1285T>A

1 paper

NM_016478.5

p.C429S

c.1286G>C

1 paper

NM_016478.5

p.R404C

c.1210C>T

1 paper

NM_016478.5

p.T387A

c.1159A>G

1 paper

NM_016478.5

p.R380Q

c.1139G>A

16 papers

NM_001282190.2

p.R342H

c.1025G>A

NM_016478.5

p.R363H

c.1088G>A

1 paper

NM_016478.5

p.P360S

c.1078C>T

1 paper

NM_016478.5

p.S338S

c.1014A>G

2 papers

NM_016478.5

p.I305V

c.913A>G