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

10 papers

NM_001126108.2

p.W172R

c.514T>C

Surrounding Variants

9 papers

NM_001126108.2

p.W172R

c.514T>A

2 papers

NM_001126108.2

p.T171T

c.513C>T

1 paper

NM_001126108.2

p.T171_V179del9

c.511_536del27

1 paper

NM_001126108.2

p.I173N

c.518T>A

3 papers

NM_001126108.2

p.L170Q

c.509T>A

1 paper

NM_001126108.2

p.I174_I175ins6

c.520_524ins18

1 paper

NM_001126108.2

p.L170_T171insGCA

c.508_512ins9

1 paper

NM_001126108.2

p.I174T

c.521T>C

3 papers

NM_001126108.2

p.I175F

c.523A>T

27 papers

NM_001126108.2

p.V169Splc

c.506-1G>A

1 paper

NM_001126108.2

p.I175_L176ins2

c.525_526ins6

1 paper

NM_001126108.2

p.S178P

c.532T>C