Varaico: Literature-Extracted Genetic Variants

Gene:CLDN9
Variant:p.I124ins0

CLDN9

38 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 4–181UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020982.4
p.I124ins0
c.370_372dupATC
Surrounding Variants
1 paper
NM_020982.4
p.I124F
c.370A>T
1 paper
NM_020982.4
p.T120A
c.358A>G
1 paper
NM_020982.4
p.R116C
c.346C>T
1 paper
NM_020982.4
p.D110_A115del6
c.328_344del18
1 paper
NM_020982.4
p.C107Y
c.320G>A
1 paper
NM_020982.4
p.T139M
c.416C>T
1 paper
NM_020982.4
p.T106T
c.318G>A
1 paper
NM_020982.4
p.C104_C107delFs
c.312_319del8
1 paper
NM_020982.4
p.C104fs
c.310_311fs
1 paper
NM_020982.4
p.V97E
c.290T>A
1 paper
NM_020982.4
p.N149N
c.447C>T
1 paper
NM_020982.4
p.L95fs
c.283_284fs
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