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.R675*

c.2023C>T

Surrounding Variants

1 paper

NM_001365088.1

p.R677C

c.2029C>T

3 papers

NM_001365088.1

p.Y679C

c.2036A>G

2 papers

NM_001365088.1

p.Y679S

c.2036A>C

1 paper

NM_001365088.1

p.Y679*

c.2037C>G

1 paper

NM_001365088.1

p.Y679*

c.2037C>A

1 paper

NM_001365088.1

p.R668L

c.2003G>T

1 paper

NM_001365088.1

p.W681Splc

c.2042+1G>A

1 paper

NM_001365088.1

p.R668*

c.2002C>T

1 paper

NM_001365088.1

p.A662D

c.1985C>A

1 paper

NM_001365088.1

p.A660V

c.1979C>T

1 paper

NM_001365088.1

p.C653Y

c.1958G>A

1 paper

NM_001365088.1

p.M648Splc

c.1943+1G>T