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

1–12 of 532 variants

14 papers

NM_000338.3

p.A508T

c.1522G>A

9 papers

NM_000338.3

p.R302W

c.904C>T

9 papers

NM_000338.3

p.Y998*

c.2994T>A

9 papers

NM_000338.3

p.Y998*

c.2994T>G

8 papers

NM_000338.3

p.G478R

c.1432G>A

8 papers

NM_000338.3

p.A498V

c.1493C>T

7 papers

NM_000338.3

p.R116H

c.347G>A

7 papers

NM_000338.3

p.R302Q

c.905G>A

7 papers

NM_000338.3

p.G478R

c.1432G>C

6 papers

NM_000338.3

p.G193R

c.577G>A

6 papers

NM_000338.3

p.G193R

c.577G>C

6 papers

NM_000338.3

p.R199C

c.595C>T