Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.I123S

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
2 papers
NM_004937.3
p.I123S
c.368T>G
Surrounding Variants
2 papers
NM_004937.3
p.A122T
c.364G>A
1 paper
NM_004937.3
p.I125V
c.373A>G
2 papers
NM_004937.3
p.R119H
c.356G>A
1 paper
NM_004937.3
p.R119S
c.355C>A
4 papers
NM_004937.3
p.Q128*
c.382C>T
1 paper
NM_004937.3
p.L116H
c.347T>A
1 paper
NM_004937.3
p.L116insFs
c.346_347ins5
1 paper
NM_004937.3
p.G131S
c.391G>A
1 paper
NM_004937.3
p.G131D
c.392G>A
1 paper
NM_004937.3
p.G131A
c.392G>C
11 papers
NM_004937.3
p.I133F
c.397A>T
1 paper
NM_004937.3
p.I113T
c.338T>C
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