Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A7
Variant:p.W616_T617del1

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.W616_T617del1
c.1848_1850delGTC
Surrounding Variants
1 paper
NM_006598.3
p.M623V
c.1867A>G
1 paper
NM_006598.3
p.A628V
c.1883C>T
1 paper
NM_006598.3
p.A638V
c.1913C>T
1 paper
NM_006598.3
p.G646S
c.1936G>A
1 paper
NM_006598.3
p.R655R
c.1965C>T
1 paper
NM_006598.3
p.W616Splc
c.1847+8C>T
1 paper
NM_006598.3
p.R610L
c.1829G>T
1 paper
NM_006598.3
p.R608L
c.1823G>T
1 paper
NM_006598.3
p.G656Splc
c.1968-131C>T
1 paper
NM_006598.3
p.A597T
c.1789G>A
1 paper
NM_006598.3
p.G656Splc
c.1968-32G>A
1 paper
NM_006598.3
p.R666H
c.1997G>A
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