Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.A368V

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.A368V
c.1103C>T
Surrounding Variants
1 paper
NM_001264.5
p.A368A
c.1104A>G
1 paper
NM_001264.5
p.A366S
c.1096G>T
1 paper
NM_001264.5
p.P371L
c.1112C>T
1 paper
NM_001264.5
p.S365insFs
c.1093_1094insG
1 paper
NM_001264.5
p.S364delFs
c.1091delG
1 paper
NM_001264.5
p.S364insFs
c.1091_1092insA
2 papers
NM_001264.5
p.G373E
c.1118G>A
1 paper
NM_001264.5
p.A363V
c.1088C>T
1 paper
NM_001264.5
p.A363D
c.1088C>A
1 paper
NM_001264.5
p.A363S
c.1087G>T
1 paper
NM_001264.5
p.A363T
c.1087G>A
3 papers
NM_001264.5
p.V377F
c.1129G>T
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