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.F20fs

c.58_59fs

Surrounding Variants

6 papers

NM_001126108.2

p.F20I

c.58T>A

1 paper

NM_001126108.2

p.R19H

c.56G>A

1 paper

NM_001126108.2

p.T21_I22insFs

c.63_64insCC

1 paper

NM_001126108.2

p.R19insFs

c.56_57dupGC

1 paper

NM_001126108.2

p.S23G

c.67A>G

2 papers

NM_001126108.2

p.C16fs

c.46_47fs

1 paper

NM_001126108.2

p.C16delFs

c.47_48delGC

1 paper

NM_001126108.2

p.T24_L25insFs

c.72_73insT

1 paper

NM_001126108.2

p.L25L

c.73C>T

3 papers

NM_001126108.2

p.C16delFs

c.46_47delTG

1 paper

NM_001126108.2

p.T14S

c.41C>G

1 paper

NM_001126108.2

p.T14I

c.41C>T