Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A6
Variant:p.E131_Y132Splc

SLC5A6

96 papers

Pfam Domains

SSFaa 59–463UCSCSodium:solute symporter family

Gene Aliases

HGNC Name

solute carrier family 5 member 6

HGNC Alias Symbol

SMVT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021095.4
p.E131_Y132Splc
c.393+2T>C
Surrounding Variants
1 paper
NM_021095.4
p.A129D
c.386C>A
13 papers
NM_021095.4
p.R123L
c.368G>T
1 paper
NM_021095.4
p.V120fs
c.358_359fs
1 paper
NM_021095.4
p.V120F
c.358G>T
1 paper
NM_021095.4
p.P119delFs
c.357delG
1 paper
NM_021095.4
p.G103G
c.309C>A
1 paper
NM_021095.4
p.F101C
c.302T>G
1 paper
NM_021095.4
p.F95I
c.283T>A
1 paper
NM_021095.4
p.R94R
c.282A>G
10 papers
NM_021095.4
p.R94*
c.280C>T
1 paper
NM_021095.4
p.R94G
c.280C>G
3 papers
NM_021095.4
p.S74F
c.221C>T
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