Varaico: Literature-Extracted Genetic Variants

SLC12A5

189 papers

RefSeq Summary

K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotrans...

Pfam Domains

AA_permeaseaa 125–330UCSCAmino acid permease

AA_permeaseaa 400–699UCSCAmino acid permease

SLC12aa 711–837UCSCSolute carrier family 12

SLC12aa 820–984UCSCSolute carrier family 12

SLC12aa 1030–1139UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 5

HGNC Alias Symbols

KIAA1176; KCC2; hKCC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020708.5

p.S1025A

c.3073T>G

Surrounding Variants

1 paper

NM_020708.5

p.S1026A

c.3076T>G

1 paper

NM_020708.5

p.D1031Y

c.3091G>T

1 paper

NM_001134771.2

p.N1041S

c.3122A>G

1 paper

NM_020708.5

p.S1034C

c.3100A>T

11 papers

NM_020708.5

p.T1007A

c.3019A>G

1 paper

NM_020708.5

p.S988A

c.2962T>G

1 paper

NM_020708.5

p.S986A

c.2956T>G

1 paper

NM_020708.5

p.P983R

c.2948C>G

1 paper

NM_020708.5

p.Q977R

c.2930A>G

1 paper

NM_020708.5

p.A960G

c.2879C>G

1 paper

NM_020708.5

p.E958K

c.2872G>A

1 paper

NM_001134771.2

p.E981*

c.2941G>T