Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.W138*

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
45 papers
NM_004937.3
p.W138*
c.413G>A
Surrounding Variants
47 papers
NM_004937.3
p.W138*
c.414G>A
1 paper
NM_004937.3
p.W138G
c.412T>G
1 paper
NM_004937.3
p.S139A
c.415T>G
2 papers
NM_004937.3
p.S139Y
c.416C>A
1 paper
NM_004937.3
p.A137D
c.410C>A
10 papers
NM_004937.3
p.S139F
c.416C>T
1 paper
NM_004937.3
p.A137V
c.410C>T
1 paper
NM_004937.3
p.V136G
c.407T>G
13 papers
NM_004937.3
p.S141F
c.422C>T
2 papers
NM_004937.3
p.F135C
c.404T>G
1 paper
NM_004937.3
p.Y134F
c.401A>T
1 paper
NM_004937.3
p.F142S
c.425T>C
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