Varaico: Literature-Extracted Genetic Variants

Gene:CLDN17
Variant:p.R159*

CLDN17

32 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 17

HGNC Alias Symbols

MGC126552; MGC126554

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012131.3
p.R159*
c.475C>T
Surrounding Variants
1 paper
NM_012131.3
p.G156R
c.466G>C
1 paper
NM_012131.3
p.G162E
c.485G>A
1 paper
NM_012131.3
p.D147Y
c.439G>T
1 paper
NM_012131.3
p.A172T
c.514G>A
1 paper
NM_012131.3
p.G179W
c.535G>T
1 paper
NM_012131.3
p.G180C
c.538G>T
1 paper
NM_012131.3
p.L182F
c.544C>T
1 paper
NM_012131.3
p.V133A
c.398T>C
1 paper
NM_012131.3
p.P200R
c.599C>G
1 paper
NM_012131.3
p.G109D
c.326G>A
1 paper
NM_012131.3
p.G98D
c.293G>A
1 paper
NM_012131.3
p.A87A
c.261T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."