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

32 papers

NM_001126108.2

p.G394Splc

c.1180+1G>T

Surrounding Variants

2 papers

NM_001126108.2

p.G394D

c.1181G>A

1 paper

NM_001126108.2

p.G394C

c.1180G>T

2 papers

NM_001126108.2

p.I393fs

c.1177_1178fs

8 papers

NM_001126108.2

p.T392I

c.1175C>T

2 papers

NM_001126108.2

p.T392P

c.1174A>C

1 paper

NM_001126108.2

p.A391_I393insFs

c.1171_1178dup8

1 paper

NM_001126108.2

p.A388D

c.1163C>A

1 paper

NM_001126108.2

p.L387L

c.1159C>T

5 papers

NM_001126108.2

p.Y386C

c.1157A>G

1 paper

NM_001126108.2

p.T383A

c.1147A>G

1 paper

NM_001126108.2

p.T382T

c.1146G>T

11 papers

NM_001126108.2

p.T382M

c.1145C>T