Varaico: Literature-Extracted Genetic Variants

Gene:CLDN18
Variant:p.V88I

CLDN18

43 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 4–192UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 18

HGNC Previous Symbol

SFTPJ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_016369.4
p.V88I
c.262G>A
Surrounding Variants
1 paper
NM_016369.4
p.R105S
c.313C>A
1 paper
NM_016369.4
p.G129Splc
c.385+44C>T
1 paper
NM_016369.4
p.G135*
c.403G>T
1 paper
NM_016369.4
p.M149L
c.445A>C
1 paper
NM_016369.4
p.M149L
c.445A>T
1 paper
NM_016369.4
p.G160G
c.480G>A
1 paper
NM_016369.4
p.T170I
c.509C>T
1 paper
NM_016369.4
p.C193W
c.579C>G
1 paper
NM_016369.4
p.A195T
c.583G>A
1 paper
NM_016369.4
p.Y206F
c.617A>T
1 paper
NM_016369.4
p.H212D
c.634C>G
1 paper
NM_016369.4
p.K221T
c.662A>C
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