Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A12
Variant:p.Y507*

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.Y507*
c.1521C>A
Surrounding Variants
1 paper
NM_178498.4
p.Y507*
c.1521C>G
1 paper
NM_178498.4
p.V488_S491delFs
c.1463_1472del10
1 paper
NM_178498.4
p.V488fs
c.1462_1463fs
1 paper
NM_178498.4
p.I458N
c.1373T>A
1 paper
NM_178498.4
p.S449*
c.1346C>G
1 paper
NM_178498.4
p.S449*
c.1346C>A
1 paper
NM_178498.4
p.K436_G437Splc
c.1308+74C>T
1 paper
NM_178498.4
p.F430L
c.1290C>G
1 paper
NM_178498.4
p.F430L
c.1290C>A
1 paper
NM_178498.4
p.F430L
c.1288T>C
1 paper
NM_178498.4
p.G414S
c.1240G>A
1 paper
NM_178498.4
p.R528H
c.1583G>A
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