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

2 papers

NM_000338.3

p.R59S

c.177A>T

Surrounding Variants

1 paper

NM_000338.3

p.K56_R57ins3

c.168_169ins9

1 paper

NM_000338.3

p.K56*

c.166A>T

1 paper

NM_000338.3

p.Q55H

c.165G>C

1 paper

NM_000338.3

p.R57insFs

c.169dupA

1 paper

NM_000338.3

p.A54V

c.161C>T

1 paper

NM_000338.3

p.Q67R

c.200A>G

1 paper

NM_000338.3

p.Q67H

c.201G>C

1 paper

NM_000338.3

p.Q67H

c.201G>T

1 paper

NM_000338.3

p.E68K

c.202G>A

1 paper

NM_000338.3

p.G51insFs

c.152_153insC

1 paper

NM_000338.3

p.C69F

c.206G>T

1 paper

NM_000338.3

p.D71G

c.212A>G