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.E133Q

c.397G>C

Surrounding Variants

1 paper

NM_000338.3

p.E133K

c.397G>A

1 paper

NM_000338.3

p.H135H

c.405C>T

1 paper

NM_000338.3

p.Q137*

c.409C>T

1 paper

NM_000338.3

p.L138I

c.412C>A

1 paper

NM_000338.3

p.R128*

c.382C>T

2 papers

NM_000338.3

p.P124L

c.371C>T

1 paper

NM_000338.3

p.G123insFs

c.367_368insT

1 paper

NM_000338.3

p.S120S

c.360C>T

1 paper

NM_000338.3

p.S120I

c.359G>T

2 papers

NM_000338.3

p.G119S

c.355G>A

1 paper

NM_000338.3

p.T118delFs

c.354delC

7 papers

NM_000338.3

p.R116H

c.347G>A