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.R642Splc

c.1925+5G>A

Surrounding Variants

2 papers

NM_001126108.2

p.R642Splc

c.1925+2T>G

1 paper

NM_001126108.2

p.R642Splc

c.1925+1G>A

37 papers

NM_001126108.2

p.R642H

c.1925G>A

19 papers

NM_001126108.2

p.R642G

c.1924C>G

49 papers

NM_001126108.2

p.R642C

c.1924C>T

1 paper

NM_001126108.2

p.Y641*

c.1923C>A

1 paper

NM_001126108.2

p.Y641*

c.1923C>G

5 papers

NM_001126108.2

p.N640S

c.1919A>G

3 papers

NM_001126108.2

p.N640D

c.1918A>G

1 paper

NM_001126108.2

p.I638M

c.1914C>G

2 papers

NM_001126108.2

p.H637Y

c.1909C>T

1 paper

NM_001126108.2

p.D636N

c.1906G>A