Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.I249_N250delFs

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
3 papers
NM_003051.4
p.I249_N250delFs
c.747_750del4
Surrounding Variants
1 paper
NM_003051.4
p.N250fs
c.748_749fs
1 paper
NM_003051.4
p.N250K
c.750T>G
1 paper
NM_003051.4
p.N250K
c.750T>A
2 papers
NM_003051.4
p.N250fs
c.748_749fs
1 paper
NM_003051.4
p.T256A
c.766A>G
1 paper
NM_003051.4
p.V245I
c.733G>A
1 paper
NM_003051.4
p.F258I
c.772T>A
1 paper
NM_003051.4
p.H260Q
c.780C>G
1 paper
NM_003051.4
p.H260Q
c.780C>A
1 paper
NM_003051.4
p.R261*
c.781A>T
1 paper
NM_003051.4
p.G235*
c.703G>T
1 paper
NM_003051.4
p.L233H
c.698T>A
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