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.G335S

c.1003G>A

Surrounding Variants

5 papers

NM_001126108.2

p.R334Q

c.1001G>A

1 paper

NM_001126108.2

p.R334P

c.1001G>C

14 papers

NM_001126108.2

p.R334W

c.1000C>T

1 paper

NM_001126108.2

p.P336L

c.1007C>T

1 paper

NM_001126108.2

p.R334_G338del5

c.1000_1013del15

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.W333*

c.998G>A

1 paper

NM_001126108.2

p.D337fs

c.1009_1010fs

2 papers

NM_001126108.2

p.W333insFs

c.997_998insC

2 papers

NM_001126108.2

p.P331L

c.992C>T

4 papers

NM_001126108.2

p.T339P

c.1015A>C