Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.Q352*

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
Selected Variant
1 paper
NM_004937.3
p.Q352*
c.1054C>T
Surrounding Variants
1 paper
NM_004937.3
p.Q352delFs
c.1056delG
1 paper
NM_004937.3
p.I351N
c.1052T>A
1 paper
NM_004937.3
p.H353D
c.1057C>G
1 paper
NM_004937.3
p.F349V
c.1045T>G
1 paper
NM_004937.3
p.Y357H
c.1069T>C
1 paper
NM_004937.3
p.V348del1
c.1042_1043delGTC
7 papers
NM_004937.3
p.D346N
c.1036G>A
1 paper
NM_004937.3
p.F345F
c.1035C>T
1 paper
NM_004937.3
p.R358_K359del1
c.1074_1076delAAA
5 papers
NM_004937.3
p.F345_D346insFs
c.1035_1036insC
1 paper
NM_004937.3
p.F345insFs
c.1034_1035insCG
2 papers
NM_004937.3
p.F345insFs
c.1033_1034insCG
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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."