Varaico: Literature-Extracted Genetic Variants

Gene:CTNS

CTNS

280 papers

RefSeq Summary

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutati...

Pfam Domains

PQ-loopaa 1–39UCSCPQ loop repeat
PQ-loopaa 118–178UCSCPQ loop repeat

Gene Aliases

HGNC Name

cystinosin, lysosomal cystine transporter

HGNC Alias Symbols

CTNS-LSB; PQLC4; SLC66A4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 419 variants
57 papers
NM_004937.3
p.G339R
c.1015G>A
51 papers
NM_004937.3
p.G339R
c.1015G>C
47 papers
NM_004937.3
p.W138*
c.414G>A
45 papers
NM_004937.3
p.W138*
c.413G>A
37 papers
NM_004937.3
p.G308R
c.922G>A
35 papers
NM_004937.3
p.E227E
c.681G>A
34 papers
NM_004937.3
p.G308R
c.922G>C
28 papers
NM_004937.3
p.G197R
c.589G>A
28 papers
NM_004937.3
p.G197R
c.589G>C
23 papers
NM_004937.3
p.L6_T7delFs
c.18_21del4
22 papers
NM_004937.3
p.N323K
c.969C>G
21 papers
NM_004937.3
p.N323K
c.969C>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."