Varaico: Literature-Extracted Genetic Variants

Gene:SLC66A1
Variant:p.R199Q

SLC66A1

33 papers

Pfam Domains

PQ-loopaa 37–98UCSCPQ loop repeat
PQ-loopaa 183–243UCSCPQ loop repeat

Gene Aliases

HGNC Name

solute carrier family 66 member 1

HGNC Previous Symbol

PQLC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040125.2
p.R199Q
c.596G>A
Surrounding Variants
1 paper
NM_001040125.2
p.S198C
c.593C>G
1 paper
NM_001040125.2
p.P201L
c.602C>T
1 paper
NM_001040125.2
p.G173D
c.518G>A
1 paper
NM_001040125.2
p.S150T
c.449G>C
1 paper
NM_001040125.2
p.V135L
c.403G>C
1 paper
NM_001040125.2
p.V135L
c.403G>T
1 paper
NM_001040125.2
p.P131P
c.393C>A
1 paper
NM_001040125.2
p.F207fs
c.619_620fs
1 paper
NM_001040125.2
p.Y248N
c.742T>A
1 paper
NM_001040125.2
p.S259N
c.776G>A
1 paper
NM_001040125.2
p.L128insFs
c.382_383ins46
1 paper
NM_001040125.2
p.L127delFs
c.381delG
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."