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

5 papers

NM_001365088.1

p.A249Splc

c.745+2T>A

Surrounding Variants

1 paper

NM_005135.2

p.A191insFs

c.571_572dupGC

1 paper

NM_001365088.1

p.S239N

c.716G>A

1 paper

NM_001365088.1

p.M238T

c.713T>C

1 paper

NM_001365088.1

p.G251insFs

c.752dupG

1 paper

NM_001365088.1

p.F254L

c.760T>C

1 paper

NM_001365088.1

p.F254fs

c.760_761fs

1 paper

NM_001365088.1

p.F254L

c.762T>G

1 paper

NM_001365088.1

p.F254L

c.762T>A

1 paper

NM_001365088.1

p.F254delFs

c.762delA

1 paper

NM_005135.2

p.R207W

c.619C>T

1 paper

NM_001365088.1

p.G266R

c.796G>C

1 paper

NM_001365088.1

p.G266R

c.796G>A