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.G102A

c.305G>C

Surrounding Variants

1 paper

NM_000338.3

p.L98delFs

c.292_293delCT

1 paper

NM_000338.3

p.A108V

c.323C>T

1 paper

NM_000338.3

p.T95_Y96delFs

c.285_288del4

3 papers

NM_000338.3

p.P110L

c.329C>T

1 paper

NM_000338.3

p.N94D

c.280A>G

1 paper

NM_000338.3

p.T93_Y97delins

c.278_289delinsCCGCCTCCT

1 paper

NM_000338.3

p.T93_N94insC

c.277_281ins3

1 paper

NM_000338.3

p.H92N

c.274C>A

2 papers

NM_000338.3

p.E113insFs

c.339dupG

1 paper

NM_000338.3

p.D90H

c.268G>C

7 papers

NM_000338.3

p.R116H

c.347G>A

2 papers

NM_000338.3

p.R116_N117insFs

c.348_349insT