Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.A279S

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.A279S
c.835G>T
Surrounding Variants
1 paper
NM_003051.4
p.L277H
c.830T>A
1 paper
NM_003051.4
p.G276R
c.826G>C
1 paper
NM_003051.4
p.G276R
c.826G>A
1 paper
NM_003051.4
p.F275delFs
c.825delA
1 paper
NM_003051.4
p.F275fs
c.823_824fs
1 paper
NM_003051.4
p.F275F
c.825T>C
1 paper
NM_003051.4
p.L284I
c.850C>A
1 paper
NM_003051.4
p.M273V
c.817A>G
1 paper
NM_003051.4
p.S285S
c.855T>C
1 paper
NM_003051.4
p.L284_S285delFs
c.851_854del4
1 paper
NM_003051.4
p.S286N
c.857G>A
1 paper
NM_003051.4
p.G288W
c.862G>T
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