Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.S209R

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.S209R
c.627C>A
Surrounding Variants
1 paper
NM_004937.3
p.S209R
c.627C>G
1 paper
NM_004937.3
p.S209R
c.625A>C
1 paper
NM_004937.3
p.L210P
c.629T>C
1 paper
NM_004937.3
p.A212V
c.635C>T
1 paper
NM_004937.3
p.V206I
c.616G>A
1 paper
NM_004937.3
p.D205A
c.614A>C
14 papers
NM_004937.3
p.D205N
c.613G>A
1 paper
NM_004937.3
p.V214_L215insFs
c.642_643ins8
1 paper
NM_004937.3
p.V214_L215insFs
c.642_643insT
1 paper
NM_004937.3
p.N204N
c.612C>T
5 papers
NM_004937.3
p.D205del1
c.613_614delGAC
2 papers
NM_004937.3
p.T216insFs
c.646dupA
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