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.V64M

c.190G>A

Surrounding Variants

6 papers

NM_001126108.2

p.D62G

c.185A>G

12 papers

NM_001126108.2

p.D62N

c.184G>A

2 papers

NM_001126108.2

p.D62H

c.184G>C

2 papers

NM_001126108.2

p.T66T

c.198A>T

1 paper

NM_001126108.2

p.Y67H

c.199T>C

118 papers

NM_001126108.2

p.T60M

c.179C>T

4 papers

NM_001126108.2

p.T60A

c.178A>G

5 papers

NM_001126108.2

p.E68K

c.202G>A

3 papers

NM_001126108.2

p.N59I

c.176A>T

4 papers

NM_001126108.2

p.H69N

c.205C>A

1 paper

NM_001126108.2

p.Y58_N59ins2

c.174_175ins6

3 papers

NM_001126108.2

p.Y70C

c.209A>G