Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A7
Variant:p.Y216F

SLC12A7

129 papers

Pfam Domains

AA_permeaseaa 123–317UCSCAmino acid permease
AA_permeaseaa 361–696UCSCAmino acid permease
SLC12aa 708–834UCSCSolute carrier family 12
SLC12aa 809–1083UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 7

HGNC Alias Symbols

KCC4; DKFZP434F076

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006598.3
p.Y216F
c.647A>T
Surrounding Variants
1 paper
NM_006598.3
p.Y216H
c.646T>C
1 paper
NM_006598.3
p.Y206delFs
c.616_617delTA
2 papers
NM_006598.3
p.G202S
c.604G>A
1 paper
NM_006598.3
p.S190P
c.568T>C
1 paper
NM_006598.3
p.Y186F
c.557A>T
1 paper
NM_006598.3
p.A168T
c.502G>A
1 paper
NM_006598.3
p.L225_T226Splc
c.676-16G>T
1 paper
NM_006598.3
p.M251T
c.752T>C
1 paper
NM_006598.3
p.Y254Y
c.762C>T
1 paper
NM_006598.3
p.A263_L264insC
c.787_791ins3
1 paper
NM_006598.3
p.V265_V266insCC
c.793_797ins6
1 paper
NM_006598.3
p.G269_V270insT
c.805_809ins3
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