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.V25D

c.74T>A

Surrounding Variants

1 paper

NM_000338.3

p.V25V

c.75C>T

1 paper

NM_000338.3

p.S24N

c.71G>A

1 paper

NM_000338.3

p.E31A

c.92A>C

1 paper

NM_000338.3

p.E31_S32insFs

c.93_94insC

1 paper

NM_000338.3

p.S32fs

c.94_95fs

1 paper

NM_000338.3

p.S33insFs

c.98_99insG

1 paper

NM_000338.3

p.T18_F21del4

c.52_62del12

2 papers

NM_000338.3

p.S33R

c.99T>A

1 paper

NM_000338.3

p.S33S

c.99T>C

1 paper

NM_000338.3

p.A36T

c.106G>A

1 paper

NM_000338.3

p.A36A

c.108A>G

1 paper

NM_000338.3

p.D37E

c.111T>A