Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.L158L

SLC16A1

270 papers

RefSeq Summary

The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutation...

Pfam Domains

MFS_1aa 22–399UCSCMajor Facilitator Superfamily
MFS_1aa 330–482UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 16 member 1

HGNC Alias Symbols

MCT; MCT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003051.4
p.L158L
c.474C>G
Surrounding Variants
1 paper
NM_003051.4
p.C159S
c.475T>A
1 paper
NM_003051.4
p.C159S
c.476G>C
1 paper
NM_003051.4
p.L158F
c.472C>T
1 paper
NM_003051.4
p.L161L
c.481C>T
1 paper
NM_003051.4
p.M151_S154insFs
c.452_461dup10
1 paper
NM_003051.4
p.G153G
c.459C>T
1 paper
NM_003051.4
p.G153V
c.458G>T
1 paper
NM_003051.4
p.L164fs
c.490_491fs
2 papers
NM_003051.4
p.L164insFs
c.490dupC
1 paper
NM_003051.4
p.L164P
c.491T>C
1 paper
NM_003051.4
p.L164fs
c.490_491fs
1 paper
NM_003051.4
p.A150A
c.450C>T
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