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_000339.3

p.L858H

c.2573T>A

NM_001126108.2

p.L849H

c.2546T>A

Surrounding Variants

1 paper

NM_000339.3

p.L858P

c.2573T>C

19 papers

NM_001126108.2

p.L850P

c.2549T>C

NM_000339.3

p.L859P

c.2576T>C

2 papers

NM_001126108.2

p.R852S

c.2554C>A

23 papers

NM_000339.3

p.R861C

c.2581C>T

NM_001126108.2

p.R852C

c.2554C>T

9 papers

NM_000339.3

p.R861H

c.2582G>A

NM_001126108.2

p.R852H

c.2555G>A

2 papers

NM_001126108.2

p.I846N

c.2537T>A

2 papers

NM_001126108.2

p.I846delFs

c.2537_2538delTT

1 paper

NM_001126108.2

p.L845fs

c.2533_2534fs

1 paper

NM_001126108.2

p.L845F

c.2533C>T

2 papers

NM_001126108.2

p.L845delFs

c.2534delT

1 paper

NM_001126108.2

p.R854K

c.2561G>A

1 paper

NM_001126108.2

p.L845delFs

c.2533delC