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

4 papers

NM_001126108.2

p.N359D

c.1075A>G

Surrounding Variants

26 papers

NM_001126108.2

p.N359K

c.1077C>A

30 papers

NM_001126108.2

p.N359K

c.1077C>G

1 paper

NM_001126108.2

p.I360V

c.1078A>G

1 paper

NM_001126108.2

p.A358fs

c.1072_1073fs

5 papers

NM_001126108.2

p.I360T

c.1079T>C

1 paper

NM_001126108.2

p.A358delFs

c.1072delG

11 papers

NM_001126108.2

p.A356V

c.1067C>T

1 paper

NM_001126108.2

p.S361S

c.1083T>C

4 papers

NM_001126108.2

p.G362S

c.1084G>A

2 papers

NM_001126108.2

p.G362D

c.1085G>A

1 paper

NM_001126108.2

p.L355P

c.1064T>C

1 paper

NM_001126108.2

p.L355fs

c.1063_1064fs