Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A11
Variant:p.V182A

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
3 papers
NM_001352248.3
p.V182A
c.545T>C
Surrounding Variants
1 paper
NM_001352248.3
p.I181fs
c.541_542fs
1 paper
NM_001352248.3
p.A180_I181insFs
c.540_541insGC
1 paper
NM_001352248.3
p.L184_L185delFs
c.552_553delAC
1 paper
NM_001352248.3
p.S172F
c.515C>T
1 paper
NM_001352248.3
p.Q171K
c.511C>A
1 paper
NM_001352248.3
p.S159_V160Splc
c.477+5G>A
1 paper
NM_001352248.3
p.K157*
c.469A>T
1 paper
NM_001352248.3
p.Y149C
c.446A>G
1 paper
NM_001352248.3
p.V147L
c.439G>C
1 paper
NM_001352248.3
p.V147L
c.439G>T
1 paper
NM_001352248.3
p.R133Q
c.398G>A
1 paper
NM_001352248.3
p.Y120N
c.358T>A
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