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.G414_G418del5

c.1240_1253del15

Surrounding Variants

1 paper

NM_001126108.2

p.G412A

c.1235G>C

1 paper

NM_001126108.2

p.T410T

c.1230C>T

3 papers

NM_001126108.2

p.T410insFs

c.1228_1229ins7

2 papers

NM_001126108.2

p.C416S

c.1246T>A

2 papers

NM_001126108.2

p.C416S

c.1247G>C

1 paper

NM_001126108.2

p.T408P

c.1222A>C

1 paper

NM_001126108.2

p.G418R

c.1252G>A

1 paper

NM_001126108.2

p.G418R

c.1252G>C

1 paper

NM_001126108.2

p.A420_C421delFs

c.1258_1262del5

1 paper

NM_001126108.2

p.L419L

c.1255C>T

1 paper

NM_001126108.2

p.L419_A420ins0

c.1257_1259dupGGC

13 papers

NM_001126108.2

p.N406H

c.1216A>C