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

1 paper

NM_001126108.2

p.K199fs

c.595_596fs

Surrounding Variants

1 paper

NM_001126108.2

p.K199delFs

c.595_596delAA

1 paper

NM_001126108.2

p.G201insFs

c.601_602insA

5 papers

NM_001126108.2

p.G201D

c.602G>A

1 paper

NM_001126108.2

p.G201V

c.602G>T

8 papers

NM_001126108.2

p.G196V

c.587G>T

1 paper

NM_001126108.2

p.N195_G196delFs

c.585_586delTG

1 paper

NM_001126108.2

p.N195fs

c.583_584fs

1 paper

NM_001126108.2

p.T194I

c.581C>T

1 paper

NM_001126108.2

p.S193_T194delFs

c.579_580delCA

1 paper

NM_001126108.2

p.S193_T194insFs

c.578_582dup5

2 papers

NM_001126108.2

p.I192T

c.575T>C

1 paper

NM_001126108.2

p.A191V

c.572C>T