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

2 papers

NM_000338.3

p.M1I

c.3G>A

Surrounding Variants

2 papers

NM_000338.3

p.M1I

c.3G>C

1 paper

NM_000338.3

p.M1_S2insFs

c.3_4insT

3 papers

NM_000338.3

p.M1I

c.3G>T

1 paper

NM_000338.3

p.S2T

c.4T>A

2 papers

NM_000338.3

p.M1T

c.2T>C

1 paper

NM_000338.3

p.S2A

c.4T>G

1 paper

NM_000338.3

p.M1insFs

c.1_2insG

1 paper

NM_000338.3

p.S2S

c.6A>G

1 paper

NM_000338.3

p.S6fs

c.16_17fs

1 paper

NM_000338.3

p.S6_S7delFs

c.18_21del4

1 paper

NM_000338.3

p.S6S

c.18T>A

1 paper

NM_000338.3

p.S7P

c.19T>C