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

2 papers

NM_001126108.2

p.G342A

c.1025G>C

Surrounding Variants

2 papers

NM_001126108.2

p.F341F

c.1023C>T

2 papers

NM_001126108.2

p.M343K

c.1028T>A

1 paper

NM_001126108.2

p.F340C

c.1019T>G

5 papers

NM_001126108.2

p.T339I

c.1016C>T

2 papers

NM_001126108.2

p.I346_G353del8

c.1036_1058del24

4 papers

NM_001126108.2

p.T339P

c.1015A>C

1 paper

NM_001126108.2

p.D337fs

c.1009_1010fs

1 paper

NM_001126108.2

p.P336_D337insFs

c.1008_1009insT

1 paper

NM_001126108.2

p.D337_G338delFs

c.1009_1012del4

1 paper

NM_001126108.2

p.P336L

c.1007C>T

5 papers

NM_001126108.2

p.P349S

c.1045C>T

12 papers

NM_001126108.2

p.P349L

c.1046C>T