Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.V211D

CDSN

820 papers

RefSeq Summary

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte m...

Gene Aliases

HGNC Name

corneodesmosin

HGNC Alias Symbol

D6S586E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001264.5
p.V211D
c.632T>A
Surrounding Variants
1 paper
NM_001264.5
p.V211I
c.631G>A
2 papers
NM_001264.5
p.V211V
c.633C>T
1 paper
NM_001264.5
p.V211V
c.633C>G
1 paper
NM_001264.5
p.V211V
c.633C>A
1 paper
NM_001264.5
p.S210R
c.630C>G
1 paper
NM_001264.5
p.S210R
c.630C>A
1 paper
NM_001264.5
p.S210R
c.628A>C
1 paper
NM_001264.5
p.Q209L
c.626A>T
4 papers
NM_001264.5
p.Q209*
c.625C>T
1 paper
NM_001264.5
p.G208insFs
c.623_624insT
1 paper
NM_001264.5
p.G208A
c.623G>C
2 papers
NM_001264.5
p.G208C
c.622G>T
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