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.R999H

c.2996G>A

Surrounding Variants

9 papers

NM_000338.3

p.Y998*

c.2994T>A

9 papers

NM_000338.3

p.Y998*

c.2994T>G

1 paper

NM_000338.3

p.P997A

c.2989C>G

1 paper

NM_000338.3

p.D1006H

c.3016G>C

1 paper

NM_000338.3

p.E1011Q

c.3031G>C

1 paper

NM_000338.3

p.P1018S

c.3052C>T

1 paper

NM_000338.3

p.I1021delFs

c.3062_3063delTT

1 paper

NM_000338.3

p.K1032_S1033Splc

c.3096+2T>A

1 paper

NM_000338.3

p.E1045K

c.3133G>A

1 paper

NM_000338.3

p.I1053L

c.3157A>C

4 papers

NM_000338.3

p.L1055Splc

c.3164+1G>A

1 paper

NM_000338.3

p.L1055Splc

c.3164+113T>G