Varaico: Literature-Extracted Genetic Variants

Gene:CLDN22
Variant:p.R214S

CLDN22

10 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 7–183UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 22

HGNC Alias Symbol

CLDN21

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001111319.3
p.R214S
c.642A>T
Surrounding Variants
1 paper
NM_001111319.3
p.R214S
c.642A>C
1 paper
NM_001111319.3
p.Q209R
c.626A>G
1 paper
NM_001111319.3
p.Q205*
c.613C>T
1 paper
NM_001111319.3
p.V201A
c.602T>C
1 paper
NM_001111319.3
p.C181_L182delFs
c.543_546del4
1 paper
NM_001111319.3
p.L177M
c.529C>A
1 paper
NM_001111319.3
p.L168V
c.502C>G
1 paper
NM_001111319.3
p.E147Q
c.439G>C
1 paper
NM_001111319.3
p.V137I
c.409G>A
1 paper
NM_001111319.3
p.R81M
c.242G>T
1 paper
NM_001111319.3
p.N37S
c.110A>G
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