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

5 papers

NM_001126108.2

p.E68K

c.202G>A

Surrounding Variants

4 papers

NM_001126108.2

p.H69N

c.205C>A

1 paper

NM_001126108.2

p.Y67H

c.199T>C

2 papers

NM_001126108.2

p.T66T

c.198A>T

3 papers

NM_001126108.2

p.Y70C

c.209A>G

1 paper

NM_001126108.2

p.Y70*

c.210T>G

1 paper

NM_001126108.2

p.A71P

c.211G>C

1 paper

NM_001126108.2

p.N72_S73insT

c.214_218ins3

1 paper

NM_001126108.2

p.V64M

c.190G>A

1 paper

NM_001126108.2

p.N72K

c.216C>A

6 papers

NM_001126108.2

p.D62G

c.185A>G

12 papers

NM_001126108.2

p.D62N

c.184G>A

2 papers

NM_001126108.2

p.D62H

c.184G>C