Varaico: Literature-Extracted Genetic Variants

Gene:SLC66A1
Variant:p.P55L

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.P55L
c.164C>T
Surrounding Variants
1 paper
NM_001040125.2
p.G17S
c.49G>A
2 papers
NM_001040125.2
p.S16N
c.47G>A
1 paper
NM_001040125.2
p.V2L
c.4G>C
1 paper
NM_001040125.2
p.V2F
c.4G>T
1 paper
NM_001040125.2
p.T63M
c.188C>T
1 paper
NM_001040125.2
p.G64D
c.191G>A
1 paper
NM_001040125.2
p.F90S
c.269T>C
1 paper
NM_001040125.2
p.L113insFs
c.338dupT
1 paper
NM_001040125.2
p.T114fs
c.340_341fs
1 paper
NM_001040125.2
p.L127delFs
c.381delG
1 paper
NM_001040125.2
p.L128insFs
c.382_383ins46
1 paper
NM_001040125.2
p.P131P
c.393C>A
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