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

12 papers

NM_001126108.2

p.P349L

c.1046C>T

Surrounding Variants

5 papers

NM_001126108.2

p.P349S

c.1045C>T

8 papers

NM_001126108.2

p.S350L

c.1049C>T

2 papers

NM_001126108.2

p.S350S

c.1050G>A

2 papers

NM_001126108.2

p.I346_G353del8

c.1036_1058del24

1 paper

NM_001126108.2

p.I354insFs

c.1061_1062dupTC

1 paper

NM_001126108.2

p.L355fs

c.1063_1064fs

2 papers

NM_001126108.2

p.M343K

c.1028T>A

1 paper

NM_001126108.2

p.L355P

c.1064T>C

11 papers

NM_001126108.2

p.A356V

c.1067C>T

2 papers

NM_001126108.2

p.G342A

c.1025G>C

1 paper

NM_001126108.2

p.A358delFs

c.1072delG

2 papers

NM_001126108.2

p.F341F

c.1023C>T