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.L419_A420ins0

c.1257_1259dupGGC

Surrounding Variants

1 paper

NM_001126108.2

p.L419L

c.1255C>T

2 papers

NM_001126108.2

p.A420T

c.1258G>A

1 paper

NM_001126108.2

p.A420fs

c.1258_1259fs

1 paper

NM_001126108.2

p.A420_C421delFs

c.1258_1262del5

1 paper

NM_001126108.2

p.G418R

c.1252G>A

1 paper

NM_001126108.2

p.G418R

c.1252G>C

13 papers

NM_001126108.2

p.C421R

c.1261T>C

1 paper

NM_001126108.2

p.C421G

c.1261T>G

6 papers

NM_001126108.2

p.C421Y

c.1262G>A

9 papers

NM_001126108.2

p.C421F

c.1262G>T

1 paper

NM_001126108.2

p.C421*

c.1263C>A

2 papers

NM_001126108.2

p.C416S

c.1247G>C