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

24 papers

NM_001126108.2

p.R83Q

c.248G>A

Surrounding Variants

9 papers

NM_001126108.2

p.R83W

c.247C>T

1 paper

NM_001126108.2

p.P84H

c.251C>A

1 paper

NM_001126108.2

p.P84L

c.251C>T

1 paper

NM_001126108.2

p.K81N

c.243G>T

1 paper

NM_001126108.2

p.T85_L86del1

c.255_257delACT

2 papers

NM_001126108.2

p.R80fs

c.238_239fs

1 paper

NM_001126108.2

p.A87delFs

c.261delT

1 paper

NM_001126108.2

p.A87A

c.261T>G

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

5 papers

NM_001126108.2

p.D88insFs

c.263_264insCC