Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.M133R

CLDN14

141 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 4–181UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 14

HGNC Previous Symbol

DFNB29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001146079.2
p.M133R
c.398T>G
Surrounding Variants
10 papers
NM_001146079.2
p.M133delFs
c.398delA
2 papers
NM_001146079.2
p.M133fs
c.397_398fs
1 paper
NM_001146079.2
p.C132W
c.396C>G
2 papers
NM_001146079.2
p.L130L
c.390C>T
1 paper
NM_001146079.2
p.G129S
c.385G>A
3 papers
NM_001146079.2
p.W138*
c.413G>A
3 papers
NM_001146079.2
p.W138*
c.414G>A
1 paper
NM_001146079.2
p.D142N
c.424G>A
1 paper
NM_001146079.2
p.L124L
c.372C>A
1 paper
NM_001146079.2
p.V143M
c.427G>A
1 paper
NM_001146079.2
p.T123T
c.369C>T
1 paper
NM_001146079.2
p.T123P
c.367A>C
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