Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1
Variant:p.L177M

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
1 paper
NM_021101.5
p.L177M
c.529C>A
Surrounding Variants
1 paper
NM_021101.5
p.A172P
c.514G>C
1 paper
NM_021101.5
p.A170A
c.510T>A
1 paper
NM_021101.5
p.G168_W169insFs
c.504_505ins5
2 papers
NM_021101.5
p.G168_W169insFs
c.504_505ins8
2 papers
NM_021101.5
p.W169fs
c.505_506fs
1 paper
NM_021101.5
p.G168D
c.503G>A
1 paper
NM_021101.5
p.G168S
c.502G>A
1 paper
NM_021101.5
p.F166_T167insFs
c.498_499insC
1 paper
NM_021101.5
p.P187L
c.560C>T
1 paper
NM_021101.5
p.L165P
c.494T>C
1 paper
NM_021101.5
p.A164_L165insFs
c.492_493ins8
1 paper
NM_021101.5
p.Q163R
c.488A>G
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