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

63 papers

NM_001126108.2

p.G741R

c.2221G>C

Surrounding Variants

64 papers

NM_001126108.2

p.G741R

c.2221G>A

1 paper

NM_001126108.2

p.V740I

c.2218G>A

1 paper

NM_001126108.2

p.K743R

c.2228A>G

7 papers

NM_001126108.2

p.L738R

c.2213T>G

1 paper

NM_001126108.2

p.I737F

c.2209A>T

1 paper

NM_001126108.2

p.P735R

c.2204C>G

1 paper

NM_001126108.2

p.W746C

c.2238G>C

1 paper

NM_001126108.2

p.W746C

c.2238G>T

1 paper

NM_001126108.2

p.K734K

c.2202G>A

4 papers

NM_001126108.2

p.S748L

c.2243C>T

1 paper

NM_001126108.2

p.G731V

c.2192G>T

17 papers

NM_001126108.2

p.G731R

c.2191G>A