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

2 papers

NM_001126108.2

p.M1T

c.2T>C

Surrounding Variants

2 papers

NM_001126108.2

p.M1insFs

c.2_3insT

4 papers

NM_001126108.2

p.M1L

c.1A>C

4 papers

NM_001126108.2

p.M1L

c.1A>T

2 papers

NM_001126108.2

p.M1insFs

c.1dupA

1 paper

NM_001126108.2

p.L4L

c.10C>T

1 paper

NM_001126108.2

p.L4_T9delFs

c.12_25del14

1 paper

NM_001126108.2

p.P5S

c.13C>T

2 papers

NM_001126108.2

p.T7delFs

c.20_21delCA

2 papers

NM_001126108.2

p.T7fs

c.19_20fs

1 paper

NM_001126108.2

p.T7fs

c.19_20fs

1 paper

NM_001126108.2

p.T7T

c.21A>G

1 paper

NM_001126108.2

p.T9S

c.25A>T