Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.L151F

CLDN16

132 papers

RefSeq Summary

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and wat...

Pfam Domains

PMP22_Claudinaa 3–183UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 16

HGNC Alias Symbols

PCLN1; HOMG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
38 papers
NM_006580.4
p.L151F
c.453G>T
Surrounding Variants
38 papers
NM_006580.4
p.L151F
c.453G>C
1 paper
NM_006580.4
p.H152Y
c.454C>T
8 papers
NM_006580.4
p.L151W
c.452T>G
1 paper
NM_006580.4
p.N153S
c.458A>G
1 paper
NM_006580.4
p.V150_L151del2
c.448_452del6
2 papers
NM_006580.4
p.R146H
c.437G>A
1 paper
NM_006580.4
p.G157C
c.469G>T
1 paper
NM_006580.4
p.Y143_V144del1
c.428_430delATG
1 paper
NM_006580.4
p.V142G
c.425T>G
1 paper
NM_006580.4
p.D141A
c.422A>C
1 paper
NM_006580.4
p.F162C
c.485T>G
1 paper
NM_006580.4
p.G163D
c.488G>A
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