Varaico: Literature-Extracted Genetic Variants

Gene:CLDN7
Variant:p.M32R

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.M32R
c.95T>G
Surrounding Variants
1 paper
NM_001307.6
p.S33C
c.97A>T
1 paper
NM_001307.6
p.V22M
c.64G>A
1 paper
NM_001307.6
p.L21M
c.61C>A
1 paper
NM_001307.6
p.G20D
c.59G>A
1 paper
NM_001307.6
p.A14fs
c.40_41fs
1 paper
NM_001307.6
p.Q57E
c.169C>G
1 paper
NM_001307.6
p.S58N
c.173G>A
1 paper
NM_001307.6
p.G60E
c.179G>A
1 paper
NM_001307.6
p.S4L
c.11C>T
1 paper
NM_001307.6
p.M1T
c.2T>C
1 paper
NM_001307.6
p.Y67C
c.200A>G
1 paper
NM_001307.6
p.A82G
c.245C>G
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