Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.W5*

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
7 papers
NM_004937.3
p.W5*
c.15G>A
Surrounding Variants
23 papers
NM_004937.3
p.L6_T7delFs
c.18_21del4
6 papers
NM_004937.3
p.W5*
c.14G>A
1 paper
NM_004937.3
p.N4N
c.12T>C
3 papers
NM_004937.3
p.T7fs
c.19_20fs
1 paper
NM_004937.3
p.W5insFs
c.13dupT
12 papers
NM_004937.3
p.T7fs
c.19_20fs
1 paper
NM_004937.3
p.I8delFs
c.22_23delAT
1 paper
NM_004937.3
p.I8I
c.24T>C
6 papers
NM_004937.3
p.M1I
c.3G>A
5 papers
NM_004937.3
p.M1I
c.3G>C
5 papers
NM_004937.3
p.M1I
c.3G>T
3 papers
NM_004937.3
p.M1T
c.2T>C
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