Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.D490E

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
41 papers
NM_003051.4
p.D490E
c.1470T>A
Surrounding Variants
32 papers
NM_003051.4
p.D490E
c.1470T>G
1 paper
NM_003051.4
p.G492W
c.1474G>T
1 paper
NM_003051.4
p.V500I
c.1498G>A
1 paper
NM_003051.4
p.A480P
c.1438G>C
4 papers
NM_003051.4
p.G472R
c.1414G>C
4 papers
NM_003051.4
p.G472R
c.1414G>A
1 paper
NM_003051.4
p.A471V
c.1412C>T
1 paper
NM_003051.4
p.E465Q
c.1393G>C
1 paper
NM_003051.4
p.S461R
c.1383T>G
1 paper
NM_003051.4
p.S461R
c.1383T>A
1 paper
NM_003051.4
p.S461R
c.1381A>C
1 paper
NM_003051.4
p.E460*
c.1378G>T
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