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.P42S

c.124C>T

Surrounding Variants

1 paper

NM_000338.3

p.P42T

c.124C>A

1 paper

NM_000338.3

p.P43A

c.127C>G

1 paper

NM_000338.3

p.D41N

c.121G>A

1 paper

NM_000338.3

p.P43Q

c.128C>A

1 paper

NM_000338.3

p.N39K

c.117T>A

1 paper

NM_000338.3

p.N39H

c.115A>C

1 paper

NM_000338.3

p.Y45F

c.134A>T

1 paper

NM_000338.3

p.D38G

c.113A>G

1 paper

NM_000338.3

p.D37E

c.111T>A

2 papers

NM_000338.3

p.E47K

c.139G>A

1 paper

NM_000338.3

p.A36A

c.108A>G

1 paper

NM_000338.3

p.A36T

c.106G>A