Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.L233H

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.L233H
c.698T>A
Surrounding Variants
1 paper
NM_003051.4
p.L233I
c.697C>A
1 paper
NM_003051.4
p.G235*
c.703G>T
1 paper
NM_003051.4
p.T231S
c.691A>T
1 paper
NM_003051.4
p.A229T
c.685G>A
1 paper
NM_003051.4
p.H227Y
c.679C>T
1 paper
NM_003051.4
p.K224Q
c.670A>C
1 paper
NM_003051.4
p.K223R
c.668A>G
1 paper
NM_003051.4
p.K223E
c.667A>G
1 paper
NM_003051.4
p.V245I
c.733G>A
1 paper
NM_003051.4
p.G221D
c.662G>A
1 paper
NM_003051.4
p.G221R
c.661G>C
2 papers
NM_003051.4
p.N250fs
c.748_749fs
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