Varaico: Literature-Extracted Genetic Variants

Gene:CUZD1
Variant:p.Y170H

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.Y170H
c.508T>C
Surrounding Variants
2 papers
NM_022034.6
p.N169S
c.506A>G
1 paper
NM_022034.6
p.S164C
c.491C>G
1 paper
NM_022034.6
p.Y190F
c.569A>T
1 paper
NM_022034.6
p.I192T
c.575T>C
1 paper
NM_022034.6
p.K197delFs
c.589_590delTT
1 paper
NM_022034.6
p.K197del1
c.589_590delTTT
1 paper
NM_022034.6
p.I203V
c.607A>G
1 paper
NM_022034.6
p.I203R
c.608T>G
1 paper
NM_022034.6
p.D204Y
c.610G>T
1 paper
NM_022034.6
p.C207Y
c.620G>A
1 paper
NM_022034.6
p.Q227H
c.681A>T
1 paper
NM_022034.6
p.Q227H
c.681A>C
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