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

14 papers

NM_000338.3

p.A508T

c.1522G>A

Surrounding Variants

1 paper

NM_000338.3

p.A508D

c.1523C>A

1 paper

NM_000338.3

p.L509M

c.1525C>A

3 papers

NM_000338.3

p.S507P

c.1519T>C

1 paper

NM_000338.3

p.S507_A508del1

c.1521_1523delCGC

1 paper

NM_000338.3

p.A508_S511del0

c.1522_1533del12

2 papers

NM_000338.3

p.A510D

c.1529C>A

4 papers

NM_000338.3

p.L505V

c.1513C>G

1 paper

NM_000338.3

p.A503V

c.1508C>T

1 paper

NM_000338.3

p.L512L

c.1536T>C

1 paper

NM_000338.3

p.S502F

c.1505C>T

1 paper

NM_000338.3

p.V513V

c.1539C>T

1 paper

NM_000338.3

p.S514N

c.1541G>A