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

1–12 of 192 variants

16 papers

NM_001365088.1

p.T991A

c.2971A>G

13 papers

NM_001365088.1

p.R1011*

c.3031C>T

12 papers

NM_001365088.1

p.L331I

c.991T>A

10 papers

NM_001365088.1

p.Q812delFs

c.2436delC

8 papers

NM_001365088.1

p.S528_F529Fs

c.1584_1585delinsGFs

7 papers

NM_001365088.1

p.R207C

c.619C>T

5 papers

NM_001365088.1

p.R207H

c.620G>A

5 papers

NM_001365088.1

p.A249Splc

c.745+2T>A

5 papers

NM_001365088.1

p.R675*

c.2023C>T

4 papers

NM_001365088.1

p.C350S

c.1048T>A

4 papers

NM_001365088.1

p.T1048A

c.3142A>G

3 papers

NM_001365088.1

p.M60_S61Fs

c.178_181delinsCATCTCACTCATFs