Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.Y321C

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.Y321C
c.962A>G
Surrounding Variants
2 papers
NM_004937.3
p.Y321fs
c.961_962fs
1 paper
NM_004937.3
p.S320delFs
c.960delC
21 papers
NM_004937.3
p.N323K
c.969C>A
22 papers
NM_004937.3
p.N323K
c.969C>G
1 paper
NM_004937.3
p.Q319delFs
c.956delA
1 paper
NM_004937.3
p.Q319fs
c.955_956fs
2 papers
NM_004937.3
p.D324N
c.970G>A
1 paper
NM_004937.3
p.D324V
c.971A>T
1 paper
NM_004937.3
p.L318H
c.953T>A
1 paper
NM_004937.3
p.L318F
c.952C>T
3 papers
NM_004937.3
p.D324Splc
c.970+2T>C
1 paper
NM_004937.3
p.D324Splc
c.970+5G>A
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