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.P1083S

c.3247C>T

Surrounding Variants

3 papers

NM_000338.3

p.P1083A

c.3247C>G

1 paper

NM_000338.3

p.T1078K

c.3233C>A

1 paper

NM_000338.3

p.G1089E

c.3266G>A

1 paper

NM_000338.3

p.E1075A

c.3224A>C

1 paper

NM_000338.3

p.L1074_I1076del3

c.3220_3227del9

1 paper

NM_000338.3

p.V1094A

c.3281T>C

1 paper

NM_000338.3

p.M1071V

c.3211A>G

3 papers

NM_000338.3

p.Y1070C

c.3209A>G

1 paper

NM_000338.3

p.L1069F

c.3207G>C

1 paper

NM_000338.3

p.L1069F

c.3207G>T

1 paper

NM_000338.3

p.D1067N

c.3199G>A

1 paper

NM_000338.3

p.S1064delFs

c.3190delT