Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.Y226*

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
4 papers
NM_004937.3
p.Y226*
c.678T>G
Surrounding Variants
4 papers
NM_004937.3
p.Y226*
c.678T>A
1 paper
NM_004937.3
p.E227*
c.679G>T
2 papers
NM_004937.3
p.E227V
c.680A>T
35 papers
NM_004937.3
p.E227E
c.681G>A
1 paper
NM_004937.3
p.E227D
c.681G>C
11 papers
NM_004937.3
p.E227_R228Splc
c.681+1G>A
1 paper
NM_004937.3
p.L225P
c.674T>C
1 paper
NM_004937.3
p.E227_R228Splc
c.681+5G>A
2 papers
NM_004937.3
p.C223F
c.668G>T
9 papers
NM_004937.3
p.Q222R
c.665A>G
3 papers
NM_004937.3
p.Q222*
c.664C>T
1 paper
NM_004937.3
p.Q222fs
c.664_665fs
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