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

1 paper

NM_000338.3

p.L479Q

c.1436T>A

Surrounding Variants

4 papers

NM_000338.3

p.L479V

c.1435C>G

1 paper

NM_000338.3

p.L479L

c.1435C>T

2 papers

NM_000338.3

p.G478A

c.1433G>C

8 papers

NM_000338.3

p.G478R

c.1432G>A

7 papers

NM_000338.3

p.G478R

c.1432G>C

1 paper

NM_000338.3

p.N481insFs

c.1442dupA

2 papers

NM_000338.3

p.Y477N

c.1429T>A

1 paper

NM_000338.3

p.C475Y

c.1424G>A

1 paper

NM_000338.3

p.P474S

c.1420C>T

1 paper

NM_000338.3

p.H472_C475del4

c.1414_1424del12

4 papers

NM_000338.3

p.R471*

c.1411C>T

1 paper

NM_000338.3

p.C470S

c.1409G>C