Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A12

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
1–12 of 72 variants
4 papers
NM_178498.4
p.C340F
c.1019G>T
2 papers
NM_178498.4
p.S72C
c.215C>G
1 paper
NM_178498.4
p.M1I
c.3G>T
1 paper
NM_178498.4
p.M1I
c.3G>C
1 paper
NM_178498.4
p.M1I
c.3G>A
1 paper
NM_178498.4
p.V8I
c.22G>A
1 paper
NM_178498.4
p.I24S
c.71T>G
1 paper
NM_178498.4
p.K35R
c.104A>G
1 paper
NM_178498.4
p.L42Q
c.125T>A
1 paper
NM_178498.4
p.V43A
c.128T>C
1 paper
NM_178498.4
p.S49I
c.146G>T
1 paper
NM_178498.4
p.G51R
c.151G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."