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

6 papers

NM_000338.3

p.G193R

c.577G>C

Surrounding Variants

6 papers

NM_000338.3

p.G193R

c.577G>A

1 paper

NM_000338.3

p.M195fs

c.583_584fs

1 paper

NM_000338.3

p.L189L

c.567G>A

1 paper

NM_000338.3

p.L196P

c.587T>C

2 papers

NM_000338.3

p.M188T

c.563T>C

1 paper

NM_000338.3

p.I198N

c.593T>A

1 paper

NM_000338.3

p.C187Y

c.560G>A

2 papers

NM_000338.3

p.R199G

c.595C>G

6 papers

NM_000338.3

p.R199C

c.595C>T

4 papers

NM_000338.3

p.R199H

c.596G>A

1 paper

NM_000338.3

p.R186T

c.557G>C

1 paper

NM_000338.3

p.R186*

c.556A>T