Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.R313Q

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.R313Q
c.938G>A
Surrounding Variants
2 papers
NM_003051.4
p.R313*
c.937C>T
1 paper
NM_003051.4
p.A312P
c.934G>C
1 paper
NM_003051.4
p.S315A
c.943T>G
1 paper
NM_003051.4
p.M316V
c.946A>G
1 paper
NM_003051.4
p.M310L
c.928A>T
1 paper
NM_003051.4
p.M310L
c.928A>C
1 paper
NM_003051.4
p.G317V
c.950G>T
3 papers
NM_003051.4
p.D309N
c.925G>A
1 paper
NM_003051.4
p.L318I
c.952C>A
1 paper
NM_003051.4
p.L318H
c.953T>A
1 paper
NM_003051.4
p.V319_A320del1
c.956_958delCTA
1 paper
NM_003051.4
p.T322K
c.965C>A
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