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

3 papers

NM_001126108.2

p.A166T

c.496G>A

Surrounding Variants

8 papers

NM_001126108.2

p.A166P

c.496G>C

1 paper

NM_001126108.2

p.A166delins

c.496_497delinsCT

4 papers

NM_001126108.2

p.A166V

c.497C>T

2 papers

NM_001126108.2

p.Q165L

c.494A>T

1 paper

NM_001126108.2

p.Q165*

c.493C>T

1 paper

NM_001126108.2

p.G167R

c.499G>C

1 paper

NM_001126108.2

p.A164delins

c.490delinsA

30 papers

NM_001126108.2

p.T163M

c.488C>T

3 papers

NM_001126108.2

p.T163fs

c.487_488fs

2 papers

NM_001126108.2

p.T163fs

c.487_488fs

3 papers

NM_001126108.2

p.V169I

c.505G>A

1 paper

NM_001126108.2

p.I162M

c.486T>G