Varaico: Literature-Extracted Genetic Variants

SLC12A1

409 papers

RefSeq Summary

This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macu...

Pfam Domains

AA_permease_Naa 90–157UCSCAmino acid permease N-terminal

AA_permeaseaa 182–686UCSCAmino acid permease

SLC12aa 694–1099UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 1

HGNC Alias Symbols

NKCC2; CCC2; BSC1; BSC; BSC-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_000338.3

p.R302Q

c.905G>A

Surrounding Variants

3 papers

NM_000338.3

p.R302fs

c.904_905fs

9 papers

NM_000338.3

p.R302W

c.904C>T

1 paper

NM_000338.3

p.R302delFs

c.904delC

1 paper

NM_000338.3

p.I304T

c.911T>C

1 paper

NM_000338.3

p.D296A

c.887A>C

1 paper

NM_000338.3

p.M293T

c.878T>C

1 paper

NM_000338.3

p.S292_M293del2

c.874_878del6

1 paper

NM_000338.3

p.D291G

c.872A>G

1 paper

NM_000338.3

p.S290N

c.869G>A

1 paper

NM_000338.3

p.G314E

c.941G>A

1 paper

NM_000338.3

p.S290C

c.868A>T

1 paper

NM_000338.3

p.I315_S316delFs

c.943_946del4