Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.F345insFs

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.F345insFs
c.1034_1035insCG
Surrounding Variants
5 papers
NM_004937.3
p.F345_D346insFs
c.1035_1036insC
1 paper
NM_004937.3
p.F345F
c.1035C>T
2 papers
NM_004937.3
p.F345insFs
c.1033_1034insCG
1 paper
NM_004937.3
p.F345fs
c.1033_1034fs
4 papers
NM_004937.3
p.V344Fs
c.1032delinsTGFs
7 papers
NM_004937.3
p.D346N
c.1036G>A
1 paper
NM_004937.3
p.V348del1
c.1042_1043delGTC
1 paper
NM_004937.3
p.D346_F349del0
c.1036_1047del12
1 paper
NM_004937.3
p.F349V
c.1045T>G
2 papers
NM_004937.3
p.G339G
c.1017G>A
2 papers
NM_004937.3
p.V340_V347del0
c.1018_1041del24
2 papers
NM_004937.3
p.G339A
c.1016G>C
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