Varaico: Literature-Extracted Genetic Variants

SLC12A3

659 papers

RefSeq Summary

This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal con...

Pfam Domains

AA_permease_Naa 45–116UCSCAmino acid permease N-terminal

AA_permeaseaa 141–647UCSCAmino acid permease

SLC12aa 655–815UCSCSolute carrier family 12

SLC12aa 795–1020UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 3

HGNC Alias Symbols

NCCT; NCC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_001126108.2

p.G186D

c.557G>A

Surrounding Variants

1 paper

NM_001126108.2

p.G186A

c.557G>C

1 paper

NM_001126108.2

p.T185fs

c.553_554fs

2 papers

NM_001126108.2

p.S188F

c.563C>T

1 paper

NM_001126108.2

p.I184F

c.550A>T

1 paper

NM_001126108.2

p.T182_S183insFs

c.546_547ins4

1 paper

NM_001126108.2

p.T182N

c.545C>A

1 paper

NM_001126108.2

p.A191T

c.571G>A

3 papers

NM_001126108.2

p.A191P

c.571G>C

1 paper

NM_001126108.2

p.A191V

c.572C>T

52 papers

NM_001126108.2

p.T180K

c.539C>A

2 papers

NM_001126108.2

p.T180R

c.539C>G

2 papers

NM_001126108.2

p.I192T

c.575T>C