Varaico: Literature-Extracted Genetic Variants

Gene:CLDN7
Variant:p.S206A

CLDN7

41 papers

RefSeq Summary

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solute...

Pfam Domains

PMP22_Claudinaa 4–182UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 7

HGNC Previous Symbols

CEPTRL2; CPETRL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001307.6
p.S206A
c.616T>G
Surrounding Variants
1 paper
NM_001307.6
p.S207A
c.619T>G
1 paper
NM_001307.6
p.S204Y
c.611C>A
1 paper
NM_001307.6
p.S204A
c.610T>G
1 paper
NM_001307.6
p.P202P
c.606T>G
1 paper
NM_001307.6
p.*212*
c.635G>A
5 papers
NM_001307.6
p.V197A
c.590T>C
1 paper
NM_001307.6
p.R196insFs
c.587_588insC
1 paper
NM_001307.6
p.S172A
c.514T>G
1 paper
NM_001307.6
p.G168S
c.502G>A
1 paper
NM_001307.6
p.F166_I167insFs
c.498_499insC
1 paper
NM_001307.6
p.E160E
c.480G>A
1 paper
NM_001307.6
p.E160K
c.478G>A
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