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

12 papers

NM_001365088.1

p.L331I

c.991T>A

Surrounding Variants

2 papers

NM_001365088.1

p.R338C

c.1012C>T

1 paper

NM_001365088.1

p.M318T

c.953T>C

1 paper

NM_001365088.1

p.M318K

c.953T>A

1 paper

NM_001365088.1

p.A313V

c.938C>T

4 papers

NM_001365088.1

p.C350S

c.1048T>A

2 papers

NM_001365088.1

p.R298*

c.892C>T

1 paper

NM_001365088.1

p.V296I

c.886G>A

1 paper

NM_001365088.1

p.H371R

c.1112A>G

1 paper

NM_001365088.1

p.P373L

c.1118C>T

2 papers

NM_001365088.1

p.P373Splc

c.1118+1G>A

NM_001042497.2

p.P358Splc

c.1073+1G>A

1 paper

NM_001365088.1

p.E289G

c.866A>G

2 papers

NM_001365088.1

p.E289K

c.865G>A