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

41 papers

NM_001126108.2

p.R904Q

c.2711G>A

NM_000339.3

p.R913Q

c.2738G>A

Surrounding Variants

1 paper

NM_001126108.2

p.R904W

c.2710C>T

1 paper

NM_001126108.2

p.A905T

c.2713G>A

1 paper

NM_000339.3

p.E915A

c.2744A>C

1 paper

NM_001126108.2

p.N902I

c.2705A>T

2 papers

NM_000339.3

p.H916Splc

c.2747+2T>A

NM_001126108.2

p.H907Splc

c.2720+2T>A

1 paper

NM_000339.3

p.H916Splc

c.2747+2T>G

1 paper

NM_001126108.2

p.N900_A905delFs

c.2698_2714del17

2 papers

NM_001126108.2

p.L896F

c.2686C>T

2 papers

NM_000339.3

p.I904F

c.2710A>T

NM_001126108.2

p.I895F

c.2683A>T

1 paper

NM_001126108.2

p.G889insFs

c.2667dupA

7 papers

NM_000339.3

p.R896Q

c.2687G>A

NM_001126108.2

p.R887Q

c.2660G>A

2 papers

NM_000339.3

p.R896*

c.2686C>T