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.A35fs

c.103_104fs

Surrounding Variants

1 paper

NM_001126108.2

p.A35_A36insA

c.103_107ins3

1 paper

NM_001126108.2

p.A35S

c.103G>T

1 paper

NM_001126108.2

p.P34_A35insFs

c.102_103insG

1 paper

NM_001126108.2

p.A35Fs

c.104delinsTTFs

1 paper

NM_001126108.2

p.P33A

c.97C>G

1 paper

NM_001126108.2

p.P33S

c.97C>T

1 paper

NM_001126108.2

p.Y37*

c.111T>A

1 paper

NM_001126108.2

p.Y37*

c.111T>G

1 paper

NM_001126108.2

p.D38delFs

c.112_113delGA

1 paper

NM_001126108.2

p.S32fs

c.94_95fs

1 paper

NM_001126108.2

p.P31S

c.91C>T

1 paper

NM_001126108.2

p.S39T

c.116G>C