Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1
Variant:p.F67delFs

CLDN1

111 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 4–182UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 1

HGNC Alias Symbols

SEMP1; ILVASC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_021101.5
p.F67delFs
c.200_201delAA
Surrounding Variants
1 paper
NM_021101.5
p.F67fs
c.199_200fs
1 paper
NM_021101.5
p.F67_D68delFs
c.201_202delCA
1 paper
NM_021101.5
p.F67Y
c.200T>A
1 paper
NM_021101.5
p.L71R
c.212T>G
2 papers
NM_021101.5
p.C64F
c.191G>T
13 papers
NM_021101.5
p.Q61*
c.181C>T
1 paper
NM_021101.5
p.V55M
c.163G>A
1 paper
NM_021101.5
p.M52L
c.154A>T
1 paper
NM_021101.5
p.E48A
c.143A>C
4 papers
NM_021101.5
p.E48K
c.142G>A
2 papers
NM_021101.5
p.Y47delFs
c.141delG
3 papers
NM_021101.5
p.Y47*
c.141C>G
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