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.W381*

c.1142G>A

Surrounding Variants

2 papers

NM_001126108.2

p.W381*

c.1143G>A

1 paper

NM_001126108.2

p.W381delFs

c.1141_1142delTG

11 papers

NM_001126108.2

p.T382M

c.1145C>T

1 paper

NM_001126108.2

p.T382T

c.1146G>T

1 paper

NM_001126108.2

p.F380L

c.1138T>C

1 paper

NM_001126108.2

p.T383A

c.1147A>G

1 paper

NM_001126108.2

p.I379fs

c.1135_1136fs

1 paper

NM_001126108.2

p.I379delFs

c.1136delT

2 papers

NM_001126108.2

p.A378T

c.1132G>A

5 papers

NM_001126108.2

p.Y386C

c.1157A>G

1 paper

NM_001126108.2

p.L387L

c.1159C>T

3 papers

NM_001126108.2

p.T375N

c.1124C>A