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.S50R

c.148A>C

Surrounding Variants

1 paper

NM_001365088.1

p.S50R

c.150C>G

1 paper

NM_001365088.1

p.S50R

c.150C>A

1 paper

NM_001365088.1

p.V51G

c.152T>G

1 paper

NM_001365088.1

p.D34_S47delFs

c.102_139del38

1 paper

NM_001365088.1

p.R56L

c.167G>T

1 paper

NM_001365088.1

p.S40insFs

c.118dupA

2 papers

NM_001365088.1

p.M60fs

c.178_179fs

3 papers

NM_001365088.1

p.M60_S61Fs

c.178_181delinsCATCTCACTCATFs

1 paper

NM_001365088.1

p.M60_S61delins

c.178_181delinsCATC

1 paper

NM_001365088.1

p.R38Q

c.113G>A

1 paper

NM_001365088.1

p.S37A

c.109T>G

1 paper

NM_001365088.1

p.S61_E62del2

c.181_185del6