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

1–12 of 1117 variants

118 papers

NM_001126108.2

p.T60M

c.179C>T

71 papers

NM_001126108.2

p.D486N

c.1456G>A

64 papers

NM_001126108.2

p.G741R

c.2221G>A

63 papers

NM_001126108.2

p.G741R

c.2221G>C

52 papers

NM_001126108.2

p.T180K

c.539C>A

49 papers

NM_001126108.2

p.R642C

c.1924C>T

38 papers

NM_001126108.2

p.G439S

c.1315G>A

37 papers

NM_001126108.2

p.R642H

c.1925G>A

32 papers

NM_001126108.2

p.G394Splc

c.1180+1G>T

30 papers

NM_001126108.2

p.T163M

c.488C>T

30 papers

NM_001126108.2

p.N359K

c.1077C>G

30 papers

NM_001126108.2

p.L849H

c.2546T>A