Varaico: Literature-Extracted Genetic Variants

Gene:CUZD1
Variant:p.Q481fs

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.Q481fs
c.1441_1442fs
Surrounding Variants
1 paper
NM_022034.6
p.Q481insFs
c.1442_1443insC
1 paper
NM_022034.6
p.G475G
c.1425A>G
1 paper
NM_022034.6
p.G475R
c.1423G>C
1 paper
NM_022034.6
p.G475R
c.1423G>A
3 papers
NM_022034.6
p.R464*
c.1390C>T
1 paper
NM_022034.6
p.C462Y
c.1385G>A
2 papers
NM_022034.6
p.R511C
c.1531C>T
3 papers
NM_022034.6
p.R511H
c.1532G>A
1 paper
NM_022034.6
p.G515D
c.1544G>A
1 paper
NM_022034.6
p.R519K
c.1556G>A
1 paper
NM_022034.6
p.S526L
c.1577C>T
1 paper
NM_022034.6
p.Y527*
c.1581T>G
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