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

7 papers

NM_001365088.1

p.R207C

c.619C>T

Surrounding Variants

5 papers

NM_001365088.1

p.R207H

c.620G>A

1 paper

NM_005135.2

p.L155F

c.465A>T

1 paper

NM_005135.2

p.L155F

c.465A>C

1 paper

NM_001365088.1

p.W210C

c.630G>T

1 paper

NM_001365088.1

p.W210C

c.630G>C

1 paper

NM_001365088.1

p.V211M

c.631G>A

1 paper

NM_001365088.1

p.G201R

c.601G>A

1 paper

NM_001365088.1

p.Y192fs

c.574_575fs

2 papers

NM_001365088.1

p.V191insFs

c.571_572dupGT

1 paper

NM_001365088.1

p.A222insFs

c.665dupC

1 paper

NM_001365088.1

p.I223fs

c.667_668fs

2 papers

NM_001365088.1

p.I223T

c.668T>C