Varaico: Literature-Extracted Genetic Variants

Gene:CDX1
Variant:p.K199N

CDX1

44 papers

RefSeq Summary

This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It h...

Pfam Domains

Caudal_actaa 13–146UCSCCaudal like protein activation region
Homeodomainaa 155–211UCSCHomeodomain

Gene Aliases

HGNC Name

caudal type homeobox 1

HGNC Previous Name

caudal type homeo box transcription factor 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001804.3
p.K199N
c.597G>T
Surrounding Variants
2 papers
NM_001804.3
p.K199N
c.597G>C
2 papers
NM_001804.3
p.Q203H
c.609A>C
2 papers
NM_001804.3
p.Q203H
c.609A>T
1 paper
NM_001804.3
p.R206Q
c.617G>A
1 paper
NM_001804.3
p.E209D
c.627G>C
1 paper
NM_001804.3
p.E209D
c.627G>T
1 paper
NM_001804.3
p.K211K
c.633A>G
1 paper
NM_001804.3
p.H229Y
c.685C>T
1 paper
NM_001804.3
p.H229Q
c.687C>A
1 paper
NM_001804.3
p.H229Q
c.687C>G
1 paper
NM_001804.3
p.A236V
c.707C>T
1 paper
NM_001804.3
p.G237R
c.709G>A
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