Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.K45E

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.K45E
c.133A>G
Surrounding Variants
1 paper
NM_003051.4
p.K45Q
c.133A>C
1 paper
NM_003051.4
p.K45R
c.134A>G
1 paper
NM_003051.4
p.E46Q
c.136G>C
1 paper
NM_003051.4
p.F43I
c.127T>A
1 paper
NM_003051.4
p.E48V
c.143A>T
1 paper
NM_003051.4
p.G49A
c.146G>C
1 paper
NM_003051.4
p.I40V
c.118A>G
1 paper
NM_003051.4
p.I50insFs
c.149dupT
2 papers
NM_003051.4
p.K38R
c.113A>G
2 papers
NM_003051.4
p.K38*
c.112A>T
1 paper
NM_003051.4
p.K38E
c.112A>G
2 papers
NM_003051.4
p.K38Q
c.112A>C
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