Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.P327S

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.P327S
c.979C>T
Surrounding Variants
3 papers
NM_003051.4
p.R328*
c.982C>T
1 paper
NM_003051.4
p.R326*
c.976A>T
1 paper
NM_003051.4
p.R328L
c.983G>T
1 paper
NM_003051.4
p.R328Q
c.983G>A
1 paper
NM_003051.4
p.I329T
c.986T>C
1 paper
NM_003051.4
p.P324S
c.970C>T
1 paper
NM_003051.4
p.K323fs
c.967_968fs
2 papers
NM_003051.4
p.Y331F
c.992A>T
1 paper
NM_003051.4
p.T322K
c.965C>A
1 paper
NM_003051.4
p.F332L
c.994T>C
1 paper
NM_003051.4
p.F332L
c.996C>G
1 paper
NM_003051.4
p.F332L
c.996C>A
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