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.R1026*

c.3076C>T

Surrounding Variants

1 paper

NM_001365088.1

p.S1023_M1024del0

c.3067_3072del6

1 paper

NM_001365088.1

p.S1023A

c.3067T>G

4 papers

NM_001365088.1

p.T1048A

c.3142A>G

1 paper

NM_001365088.1

p.R1075C

c.3223C>T

1 paper

NM_001365088.1

p.E1014_A1015Splc

c.3042+8A>G

13 papers

NM_001365088.1

p.R1011*

c.3031C>T

1 paper

NM_001365088.1

p.R1002W

c.3004C>T

2 papers

NM_001365088.1

p.L1001L

c.3003C>T

1 paper

NM_001365088.1

p.Q996*

c.2986C>T

16 papers

NM_001365088.1

p.T991A

c.2971A>G

1 paper

NM_001365088.1

p.R990C

c.2968C>T

1 paper

NM_001365088.1

p.D980N

c.2938G>A