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.G498Splc

c.1492+45C>T

Surrounding Variants

1 paper

NM_001365088.1

p.F493L

c.1479T>G

1 paper

NM_001365088.1

p.F493L

c.1479T>A

1 paper

NM_001365088.1

p.F493L

c.1477T>C

1 paper

NM_001365088.1

p.S484S

c.1452C>G

1 paper

NM_001365088.1

p.V477delFs

c.1431delA

1 paper

NM_001365088.1

p.I518F

c.1552A>T

1 paper

NM_005135.2

p.N399S

c.1196A>G

2 papers

NM_001365088.1

p.A523T

c.1567G>A

1 paper

NM_001365088.1

p.L525_T526delFs

c.1574_1578del5

8 papers

NM_001365088.1

p.S528_F529Fs

c.1584_1585delinsGFs

2 papers

NM_001365088.1

p.F529fs

c.1585_1586fs

1 paper

NM_001365088.1

p.Y531Splc

c.1592-50A>G