Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.L314_F317del4

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.L314_F317del4
c.940_950del12
Surrounding Variants
1 paper
NM_004937.3
p.S312R
c.936C>A
1 paper
NM_004937.3
p.S312R
c.936C>G
1 paper
NM_004937.3
p.S312N
c.935G>A
1 paper
NM_004937.3
p.S312R
c.934A>C
1 paper
NM_004937.3
p.S312C
c.934A>T
3 papers
NM_004937.3
p.Q315*
c.943C>T
1 paper
NM_004937.3
p.Q315R
c.944A>G
1 paper
NM_004937.3
p.S310fs
c.928_929fs
2 papers
NM_004937.3
p.S310fs
c.928_929fs
3 papers
NM_004937.3
p.G309_S310insFs
c.927_928insG
6 papers
NM_004937.3
p.G309D
c.926G>A
1 paper
NM_004937.3
p.M316I
c.948G>A
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