Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A12
Variant:p.S258*

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.S258*
c.773C>G
Surrounding Variants
1 paper
NM_178498.4
p.S258*
c.773C>A
1 paper
NM_178498.4
p.R262L
c.785G>T
1 paper
NM_178498.4
p.G251_I252insA
c.751_755ins3
1 paper
NM_178498.4
p.T259_E269del11
c.775_806del33
1 paper
NM_178498.4
p.H271D
c.811C>G
1 paper
NM_178498.4
p.V243A
c.728T>C
1 paper
NM_178498.4
p.V230V
c.690A>C
1 paper
NM_178498.4
p.T198M
c.593C>T
1 paper
NM_178498.4
p.G195fs
c.583_584fs
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.L280S
c.839T>C
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