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.I521V

c.1561A>G

Surrounding Variants

1 paper

NM_001126108.2

p.I522N

c.1565T>A

15 papers

NM_001126108.2

p.A523T

c.1567G>A

1 paper

NM_001126108.2

p.F519fs

c.1555_1556fs

3 papers

NM_001126108.2

p.I521_I522del1

c.1562_1564delTCA

1 paper

NM_001126108.2

p.F519delFs

c.1555delT

1 paper

NM_001126108.2

p.A518G

c.1553C>G

1 paper

NM_001126108.2

p.A518T

c.1552G>A

2 papers

NM_001126108.2

p.I515V

c.1543A>G

1 paper

NM_001126108.2

p.A514V

c.1541C>T

1 paper

NM_001126108.2

p.G508D

c.1523G>A

1 paper

NM_001126108.2

p.G508V

c.1523G>T

1 paper

NM_001126108.2

p.G508S

c.1522G>A