Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.V198V

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.V198V
c.594G>A
Surrounding Variants
1 paper
NM_004937.3
p.V198M
c.592G>A
1 paper
NM_004937.3
p.G197A
c.590G>C
8 papers
NM_004937.3
p.P200L
c.599C>T
28 papers
NM_004937.3
p.G197R
c.589G>A
28 papers
NM_004937.3
p.G197R
c.589G>C
1 paper
NM_004937.3
p.N196fs
c.586_587fs
2 papers
NM_004937.3
p.N196insFs
c.587_588insA
1 paper
NM_004937.3
p.S203C
c.607A>T
5 papers
NM_004937.3
p.D205del1
c.613_614delGAC
1 paper
NM_004937.3
p.N204N
c.612C>T
14 papers
NM_004937.3
p.D205N
c.613G>A
1 paper
NM_004937.3
p.D205A
c.614A>C
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