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

52 papers

NM_001126108.2

p.T180K

c.539C>A

Surrounding Variants

2 papers

NM_001126108.2

p.T180R

c.539C>G

1 paper

NM_001126108.2

p.T180fs

c.538_539fs

7 papers

NM_001126108.2

p.V179D

c.536T>A

1 paper

NM_001126108.2

p.T182N

c.545C>A

14 papers

NM_001126108.2

p.S178L

c.533C>T

1 paper

NM_001126108.2

p.T182_S183insFs

c.546_547ins4

1 paper

NM_001126108.2

p.S178P

c.532T>C

1 paper

NM_001126108.2

p.I184F

c.550A>T

1 paper

NM_001126108.2

p.T185fs

c.553_554fs

1 paper

NM_001126108.2

p.I175_L176ins2

c.525_526ins6

3 papers

NM_001126108.2

p.I175F

c.523A>T

11 papers

NM_001126108.2

p.G186D

c.557G>A