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

2 papers

NM_001126108.2

p.P76S

c.226C>T

Surrounding Variants

1 paper

NM_001126108.2

p.Q75L

c.224A>T

2 papers

NM_001126108.2

p.G77R

c.229G>C

1 paper

NM_001126108.2

p.E78fs

c.232_233fs

5 papers

NM_001126108.2

p.E78delFs

c.234delG

1 paper

NM_001126108.2

p.R80insFs

c.238dupC

5 papers

NM_001126108.2

p.P79_R80insFs

c.237_238dupCC

1 paper

NM_001126108.2

p.R80delFs

c.238delC

1 paper

NM_001126108.2

p.N72K

c.216C>A

1 paper

NM_001126108.2

p.N72_S73insT

c.214_218ins3

2 papers

NM_001126108.2

p.R80fs

c.238_239fs

1 paper

NM_001126108.2

p.A71P

c.211G>C

1 paper

NM_001126108.2

p.Y70*

c.210T>G