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

3 papers

NM_001126108.2

p.A878Splc

c.2633+1G>C

Surrounding Variants

8 papers

NM_001126108.2

p.A878Splc

c.2633+1G>A

NM_000339.3

p.A887Splc

c.2660+1G>A

1 paper

NM_001126108.2

p.A878T

c.2632G>A

1 paper

NM_000339.3

p.R885I

c.2654G>T

1 paper

NM_001126108.2

p.M872_A878insFs

c.2615_2633dup19

5 papers

NM_001126108.2

p.R871K

c.2612G>A

1 paper

NM_001126108.2

p.R871M

c.2612G>T

1 paper

NM_001126108.2

p.G867G

c.2601C>A

2 papers

NM_001126108.2

p.G867S

c.2599G>A

3 papers

NM_000339.3

p.G875G

c.2625C>T

10 papers

NM_000339.3

p.R871H

c.2612G>A

1 paper

NM_001126108.2

p.R862P

c.2585G>C

1 paper

NM_000339.3

p.R871L

c.2612G>T