Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.G309D

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
6 papers
NM_004937.3
p.G309D
c.926G>A
Surrounding Variants
1 paper
NM_004937.3
p.G309A
c.926G>C
4 papers
NM_004937.3
p.G309V
c.926G>T
3 papers
NM_004937.3
p.G309_S310insFs
c.927_928insG
2 papers
NM_004937.3
p.G309S
c.925G>A
2 papers
NM_004937.3
p.G309C
c.925G>T
1 paper
NM_004937.3
p.S310fs
c.928_929fs
2 papers
NM_004937.3
p.S310fs
c.928_929fs
2 papers
NM_004937.3
p.G308E
c.923G>A
5 papers
NM_004937.3
p.G308V
c.923G>T
37 papers
NM_004937.3
p.G308R
c.922G>A
34 papers
NM_004937.3
p.G308R
c.922G>C
1 paper
NM_004937.3
p.T307T
c.921C>A
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