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.R54C

c.160C>T

Surrounding Variants

1 paper

NM_001126108.2

p.T55P

c.163A>C

1 paper

NM_001126108.2

p.T55A

c.163A>G

1 paper

NM_001126108.2

p.G57ins1

c.170_171insGCA

2 papers

NM_001126108.2

p.G57V

c.170G>T

1 paper

NM_001126108.2

p.G57_T60del0

c.171_179del9

1 paper

NM_001126108.2

p.G57_V64del0

c.171_191del21

1 paper

NM_001126108.2

p.Y58_N59ins2

c.174_175ins6

1 paper

NM_001126108.2

p.S49N

c.146G>A

3 papers

NM_001126108.2

p.N59I

c.176A>T

1 paper

NM_001126108.2

p.S48R

c.144C>A

1 paper

NM_001126108.2

p.S48R

c.144C>G

1 paper

NM_001126108.2

p.S48R

c.142A>C