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.G493S

c.1477G>A

Surrounding Variants

1 paper

NM_001126108.2

p.G493fs

c.1477_1478fs

1 paper

NM_001126108.2

p.G493delFs

c.1478delG

1 paper

NM_001126108.2

p.G493insFs

c.1479dupC

2 papers

NM_001126108.2

p.F495L

c.1483T>C

1 paper

NM_001126108.2

p.F495S

c.1484T>C

2 papers

NM_001126108.2

p.F495L

c.1485C>A

2 papers

NM_001126108.2

p.F495L

c.1485C>G

9 papers

NM_001126108.2

p.G496C

c.1486G>T

5 papers

NM_001126108.2

p.K497*

c.1489A>T

5 papers

NM_001126108.2

p.Y489H

c.1465T>C

71 papers

NM_001126108.2

p.D486N

c.1456G>A

1 paper

NM_001126108.2

p.Q487_Y489del0

c.1459_1467del9