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

1 paper

NM_001126108.2

p.S48R

c.144C>A

Surrounding Variants

1 paper

NM_001126108.2

p.S48R

c.144C>G

1 paper

NM_001126108.2

p.S48R

c.142A>C

1 paper

NM_001126108.2

p.S49N

c.146G>A

2 papers

NM_001126108.2

p.H47fs

c.139_140fs

1 paper

NM_001126108.2

p.H47fs

c.139_140fs

1 paper

NM_001126108.2

p.H47_S48del2

c.139_143del6

3 papers

NM_001126108.2

p.H47delFs

c.139delC

2 papers

NM_001126108.2

p.T46_H47del2

c.136_140del6

1 paper

NM_001126108.2

p.L45M

c.133C>A

3 papers

NM_001126108.2

p.R54C

c.160C>T

1 paper

NM_001126108.2

p.T55P

c.163A>C

1 paper

NM_001126108.2

p.T55A

c.163A>G