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.S615W

c.1844C>G

Surrounding Variants

23 papers

NM_001126108.2

p.S615L

c.1844C>T

1 paper

NM_001126108.2

p.S615insFs

c.1843_1844insC

1 paper

NM_001126108.2

p.V616I

c.1846G>A

6 papers

NM_001126108.2

p.S614F

c.1841C>T

1 paper

NM_001126108.2

p.S614P

c.1840T>C

1 paper

NM_001126108.2

p.Q617*

c.1849C>T

5 papers

NM_001126108.2

p.Q617R

c.1850A>G

8 papers

NM_001126108.2

p.G613S

c.1837G>A

2 papers

NM_001126108.2

p.W612C

c.1836G>C

2 papers

NM_001126108.2

p.W612C

c.1836G>T

1 paper

NM_001126108.2

p.A618S

c.1852G>T

1 paper

NM_001126108.2

p.G619S

c.1855G>A