Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A7
Variant:p.E566Q

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
1 paper
NM_006598.3
p.E566Q
c.1696G>C
Surrounding Variants
1 paper
NM_006598.3
p.A557T
c.1669G>A
1 paper
NM_006598.3
p.T555M
c.1664C>T
1 paper
NM_006598.3
p.S582Y
c.1745C>A
1 paper
NM_006598.3
p.A597T
c.1789G>A
1 paper
NM_006598.3
p.R608L
c.1823G>T
1 paper
NM_006598.3
p.R610L
c.1829G>T
1 paper
NM_006598.3
p.W616Splc
c.1847+8C>T
1 paper
NM_006598.3
p.Q543_V544Splc
c.1629+126T>G
3 papers
NM_006598.3
p.R535H
c.1604G>A
1 paper
NM_006598.3
p.R528C
c.1582C>T
1 paper
NM_006598.3
p.I507V
c.1519A>G
1 paper
NM_006598.3
p.S503P
c.1507T>C
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