Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A7

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
1–12 of 146 variants
3 papers
NM_006598.3
p.A408T
c.1222G>A
3 papers
NM_006598.3
p.R535H
c.1604G>A
3 papers
NM_006598.3
p.R816C
c.2446C>T
2 papers
NM_006598.3
p.R111Q
c.332G>A
2 papers
NM_006598.3
p.G202S
c.604G>A
2 papers
NM_006598.3
p.Y216F
c.647A>T
2 papers
NM_006598.3
p.P429P
c.1287T>C
2 papers
NM_006598.3
p.V480M
c.1438G>A
2 papers
NM_006598.3
p.H686fs
c.2056_2057fs
2 papers
NM_006598.3
p.V812V
c.2436G>A
1 paper
NM_006598.3
p.P28fs
c.82_83fs
1 paper
NM_006598.3
p.A27_E32delFs
c.81_94del14
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