Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A7
Variant:p.P306L

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.P306L
c.917C>T
Surrounding Variants
1 paper
NM_006598.3
p.L309H
c.926T>A
1 paper
NM_006598.3
p.R317fs
c.949_950fs
1 paper
NM_006598.3
p.F320L
c.958T>C
1 paper
NM_006598.3
p.F320L
c.960C>G
1 paper
NM_006598.3
p.F320L
c.960C>A
1 paper
NM_006598.3
p.K325R
c.974A>G
1 paper
NM_006598.3
p.W339R
c.1015T>C
1 paper
NM_006598.3
p.W339R
c.1015T>A
1 paper
NM_006598.3
p.C343S
c.1027T>A
1 paper
NM_006598.3
p.C343S
c.1028G>C
1 paper
NM_006598.3
p.P348L
c.1043C>T
1 paper
NM_006598.3
p.A351V
c.1052C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."