Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.G45R

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
1 paper
NM_006580.4
p.G45R
c.133G>C
Surrounding Variants
1 paper
NM_006580.4
p.L46V
c.136C>G
2 papers
NM_006580.4
p.C43Y
c.128G>A
2 papers
NM_006580.4
p.W47*
c.140G>A
2 papers
NM_006580.4
p.W47*
c.141G>A
1 paper
NM_006580.4
p.S40G
c.118A>G
1 paper
NM_006580.4
p.C50_V51delFs
c.150_151delCG
1 paper
NM_006580.4
p.C50delFs
c.150delC
2 papers
NM_006580.4
p.E38_V39Splc
c.115-1G>A
1 paper
NM_006580.4
p.V39_L46del8
c.115_137del24
1 paper
NM_006580.4
p.V39delFs
c.115delG
1 paper
NM_006580.4
p.N53fs
c.157_158fs
1 paper
NM_006580.4
p.F55delFs
c.164delT
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