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.K772R

c.2315A>G

Surrounding Variants

2 papers

NM_001365088.1

p.L769delFs

c.2306delA

1 paper

NM_001365088.1

p.T778I

c.2333C>T

1 paper

NM_001365088.1

p.L783L

c.2349C>T

1 paper

NM_001365088.1

p.L808*

c.2423T>G

1 paper

NM_001365088.1

p.L808*

c.2423T>A

10 papers

NM_001365088.1

p.Q812delFs

c.2436delC

1 paper

NM_005135.2

p.P699insFs

c.2097dupA

1 paper

NM_001365088.1

p.A741T

c.2221G>A

1 paper

NM_001365088.1

p.G729A

c.2186G>C

1 paper

NM_001365088.1

p.E723D

c.2169G>T

1 paper

NM_001365088.1

p.E723D

c.2169G>C

1 paper

NM_001365088.1

p.Y702Y

c.2106T>C