Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A11
Variant:p.A30fs

SLC5A11

49 papers

RefSeq Summary

Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, ...

Pfam Domains

SSFaa 58–487UCSCSodium:solute symporter family

Gene Aliases

HGNC Name

solute carrier family 5 member 11

HGNC Alias Symbols

KST1; SMIT2; SGLT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001352248.3
p.A30fs
c.88_89fs
Surrounding Variants
1 paper
NM_001352248.3
p.Q12R
c.35A>G
1 paper
NM_001352248.3
p.W45_S46Splc
c.135+24G>T
1 paper
NM_001352248.3
p.V48V
c.144G>A
1 paper
NM_001352248.3
p.V55L
c.163G>C
1 paper
NM_001352248.3
p.W68*
c.203G>A
1 paper
NM_001352248.3
p.W68*
c.204G>A
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