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.E635D

c.1905A>C

Surrounding Variants

1 paper

NM_001126108.2

p.E635D

c.1905A>T

1 paper

NM_001126108.2

p.D636N

c.1906G>A

1 paper

NM_001126108.2

p.E635K

c.1903G>A

2 papers

NM_001126108.2

p.H637Y

c.1909C>T

1 paper

NM_001126108.2

p.V634A

c.1901T>C

2 papers

NM_001126108.2

p.E633fs

c.1897_1898fs

1 paper

NM_001126108.2

p.I638M

c.1914C>G

2 papers

NM_001126108.2

p.E633insFs

c.1897_1898insG

3 papers

NM_001126108.2

p.N640D

c.1918A>G

5 papers

NM_001126108.2

p.N640S

c.1919A>G

7 papers

NM_001126108.2

p.G630V

c.1889G>T

1 paper

NM_001126108.2

p.Y641*

c.1923C>A