Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.L338P

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
9 papers
NM_004937.3
p.L338P
c.1013T>C
Surrounding Variants
7 papers
NM_004937.3
p.L338R
c.1013T>G
57 papers
NM_004937.3
p.G339R
c.1015G>A
51 papers
NM_004937.3
p.G339R
c.1015G>C
2 papers
NM_004937.3
p.G339A
c.1016G>C
6 papers
NM_004937.3
p.G337R
c.1009G>A
2 papers
NM_004937.3
p.G339G
c.1017G>A
5 papers
NM_004937.3
p.G337R
c.1009G>C
2 papers
NM_004937.3
p.V340_V347del0
c.1018_1041del24
1 paper
NM_004937.3
p.K335R
c.1004A>G
4 papers
NM_004937.3
p.T334N
c.1001C>A
3 papers
NM_004937.3
p.T334S
c.1001C>G
1 paper
NM_004937.3
p.T334S
c.1000A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."