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

38 papers

NM_001126108.2

p.G439S

c.1315G>A

Surrounding Variants

9 papers

NM_001126108.2

p.G439V

c.1316G>T

1 paper

NM_001126108.2

p.I441T

c.1322T>C

1 paper

NM_001126108.2

p.I441S

c.1322T>G

6 papers

NM_001126108.2

p.N442S

c.1325A>G

5 papers

NM_001126108.2

p.N442K

c.1326C>A

6 papers

NM_001126108.2

p.N442K

c.1326C>G

2 papers

NM_001126108.2

p.Y444delFs

c.1331delA

1 paper

NM_001126108.2

p.Y444fs

c.1330_1331fs

1 paper

NM_001126108.2

p.Q433P

c.1298A>C

1 paper

NM_001126108.2

p.Y444*

c.1332C>G

1 paper

NM_001126108.2

p.Q433_H434ins6

c.1297_1301ins18

1 paper

NM_001126108.2

p.Q433E

c.1297C>G