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.I162delFs

c.486delT

Surrounding Variants

3 papers

NM_001126108.2

p.W161*

c.483G>A

1 paper

NM_001126108.2

p.I162_T163delFs

c.486_489del4

3 papers

NM_001126108.2

p.W161*

c.482G>A

1 paper

NM_001126108.2

p.I162M

c.486T>G

5 papers

NM_001126108.2

p.I162_A164Fs

c.486_490delinsAFs

3 papers

NM_001126108.2

p.T163fs

c.487_488fs

2 papers

NM_001126108.2

p.T163fs

c.487_488fs

30 papers

NM_001126108.2

p.T163M

c.488C>T

1 paper

NM_001126108.2

p.A164delins

c.490delinsA

1 paper

NM_001126108.2

p.P160insFs

c.480dupC

1 paper

NM_001126108.2

p.Q165*

c.493C>T

2 papers

NM_001126108.2

p.Q165L

c.494A>T