Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A12
Variant:p.Q134*

SLC5A12

59 papers

RefSeq Summary

Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 ...

Pfam Domains

SSFaa 41–445UCSCSodium:solute symporter family

Gene Aliases

HGNC Name

solute carrier family 5 member 12

HGNC Alias Symbols

MGC52019; SMCT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178498.4
p.Q134*
c.400C>T
Surrounding Variants
1 paper
NM_178498.4
p.V133A
c.398T>C
1 paper
NM_178498.4
p.R124C
c.370C>T
1 paper
NM_178498.4
p.Y114_Q116delFs
c.340_347del8
1 paper
NM_178498.4
p.E113_Y114Splc
c.340-3T>C
1 paper
NM_178498.4
p.A149T
c.445G>A
1 paper
NM_178498.4
p.V153M
c.457G>A
1 paper
NM_178498.4
p.D157Y
c.469G>T
1 paper
NM_178498.4
p.G176R
c.526G>C
1 paper
NM_178498.4
p.G176R
c.526G>A
1 paper
NM_178498.4
p.G195fs
c.583_584fs
1 paper
NM_178498.4
p.T198M
c.593C>T
1 paper
NM_178498.4
p.P101T
c.301C>A
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