Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A11
Variant:p.I527M

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
2 papers
NM_001352248.3
p.I527M
c.1581C>G
Surrounding Variants
1 paper
NM_001352248.3
p.M526I
c.1578G>A
1 paper
NM_001352248.3
p.M526I
c.1578G>C
1 paper
NM_001352248.3
p.M526I
c.1578G>T
1 paper
NM_001352248.3
p.K517_S518del1
c.1551_1553delGAG
1 paper
NM_001352248.3
p.S540_W541insGC
c.1618_1622ins6
1 paper
NM_001352248.3
p.D498N
c.1492G>A
1 paper
NM_001352248.3
p.N476delFs
c.1428delT
2 papers
NM_001352248.3
p.S455S
c.1365C>T
1 paper
NM_001352248.3
p.Q446K
c.1336C>A
1 paper
NM_001352248.3
p.P437S
c.1309C>T
1 paper
NM_001352248.3
p.V431_S432del1
c.1293_1295delCTC
1 paper
NM_001352248.3
p.S552_H553del2
c.1654_1658del6
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