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.S402Y

c.1205C>A

Surrounding Variants

6 papers

NM_001126108.2

p.S402F

c.1205C>T

1 paper

NM_001126108.2

p.A401D

c.1202C>A

2 papers

NM_001126108.2

p.A401V

c.1202C>T

1 paper

NM_001126108.2

p.G403E

c.1208G>A

1 paper

NM_001126108.2

p.A401fs

c.1201_1202fs

1 paper

NM_001126108.2

p.V404I

c.1210G>A

5 papers

NM_001126108.2

p.R399H

c.1196G>A

3 papers

NM_001126108.2

p.R399P

c.1196G>C

3 papers

NM_001126108.2

p.R399L

c.1196G>T

25 papers

NM_001126108.2

p.R399C

c.1195C>T

1 paper

NM_001126108.2

p.L405L

c.1215G>A

13 papers

NM_001126108.2

p.N406H

c.1216A>C