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.Q432R

c.1295A>G

Surrounding Variants

1 paper

NM_001126108.2

p.Q433_H434ins6

c.1297_1301ins18

1 paper

NM_001126108.2

p.Q433E

c.1297C>G

1 paper

NM_001126108.2

p.Q433P

c.1298A>C

3 papers

NM_001126108.2

p.C430Y

c.1289G>A

15 papers

NM_001126108.2

p.C430G

c.1288T>G

1 paper

NM_001126108.2

p.E429A

c.1286A>C

1 paper

NM_001126108.2

p.E429K

c.1285G>A

3 papers

NM_001126108.2

p.T428T

c.1284C>G

3 papers

NM_001126108.2

p.T428I

c.1283C>T

1 paper

NM_001126108.2

p.T428P

c.1282A>C

10 papers

NM_001126108.2

p.N426K

c.1278C>A

10 papers

NM_001126108.2

p.N426K

c.1278C>G