Varaico: Literature-Extracted Genetic Variants

Gene:CUZD1
Variant:p.C229S

CUZD1

56 papers

Pfam Domains

CUBaa 50–143UCSCCUB domain
CUBaa 154–262UCSCCUB domain
ZP-Naa 277–368UCSCZP-N domain
Zona_pellucidaaa 389–513UCSCZP-C domain

Gene Aliases

HGNC Name

CUB and zona pellucida like domains 1

HGNC Alias Symbols

ERG-1; UO-44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022034.6
p.C229S
c.685T>A
Surrounding Variants
1 paper
NM_022034.6
p.C229S
c.686G>C
1 paper
NM_022034.6
p.Q227H
c.681A>T
1 paper
NM_022034.6
p.Q227H
c.681A>C
3 papers
NM_022034.6
p.R231H
c.692G>A
1 paper
NM_022034.6
p.V232L
c.694G>T
1 paper
NM_022034.6
p.V232L
c.694G>C
1 paper
NM_022034.6
p.S238L
c.713C>T
1 paper
NM_022034.6
p.L243Q
c.728T>A
4 papers
NM_022034.6
p.V246M
c.736G>A
1 paper
NM_022034.6
p.C207Y
c.620G>A
1 paper
NM_022034.6
p.D204Y
c.610G>T
1 paper
NM_022034.6
p.I203R
c.608T>G
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