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.I450_S451del2

c.1348_1352del6

Surrounding Variants

2 papers

NM_000338.3

p.S451C

c.1352C>G

1 paper

NM_000338.3

p.G452R

c.1354G>A

1 paper

NM_000338.3

p.M453_N454delFs

c.1358_1361del4

3 papers

NM_000338.3

p.G443R

c.1327G>A

3 papers

NM_000338.3

p.G443R

c.1327G>C

3 papers

NM_000338.3

p.R439Q

c.1316G>A

1 paper

NM_000338.3

p.C461S

c.1381T>A

5 papers

NM_000338.3

p.C461R

c.1381T>C

1 paper

NM_000338.3

p.C461Y

c.1382G>A

1 paper

NM_000338.3

p.G462delFs

c.1384delG

2 papers

NM_000338.3

p.G462E

c.1385G>A

1 paper

NM_000338.3

p.V437M

c.1309G>A