Varaico: Literature-Extracted Genetic Variants

SLC12A6

176 papers

RefSeq Summary

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium ...

Pfam Domains

AA_permeaseaa 190–384UCSCAmino acid permease

AA_permeaseaa 450–761UCSCAmino acid permease

SLC12aa 773–897UCSCSolute carrier family 12

SLC12aa 891–1150UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 6

HGNC Previous Symbols

KCC3; ACCPN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365088.1

p.T813fs

c.2437_2438fs

Surrounding Variants

1 paper

NM_001365088.1

p.T813T

c.2439C>T

2 papers

NM_001365088.1

p.T813fs

c.2437_2438fs

1 paper

NM_001365088.1

p.C827C

c.2481C>T

1 paper

NM_001365088.1

p.A833V

c.2498C>T

1 paper

NM_001365088.1

p.L842L

c.2526C>T

1 paper

NM_001365088.1

p.N862S

c.2585A>G

1 paper

NM_001365088.1

p.R865G

c.2593C>G

1 paper

NM_001365088.1

p.D869G

c.2606A>G

1 paper

NM_001365088.1

p.A872T

c.2614G>A

1 paper

NM_001365088.1

p.G878Splc

c.2633-1G>A

1 paper

NM_001365088.1

p.R881*

c.2641C>T

1 paper

NM_001365088.1

p.V882L

c.2644G>T