Varaico: Literature-Extracted Genetic Variants

Gene:CLTRN
Variant:p.Q102P

CLTRN

25 papers

RefSeq Summary

This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid trans...

Pfam Domains

Collectrinaa 24–171UCSCRenal amino acid transporter

Gene Aliases

HGNC Name

collectrin, amino acid transport regulator

HGNC Alias Symbol

NX17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020665.6
p.Q102P
c.305A>C
Surrounding Variants
1 paper
NM_020665.6
p.V87I
c.259G>A
1 paper
NM_020665.6
p.E68Splc
c.204-1G>A
1 paper
NM_020665.6
p.R106Splc
c.318-2A>G
1 paper
NM_020665.6
p.E124E
c.372A>G
1 paper
NM_020665.6
p.I128N
c.383T>A
1 paper
NM_020665.6
p.R171Splc
c.512+2T>A
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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."