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_001134771.2

p.Y218F

c.653A>T

Surrounding Variants

10 papers

NM_020708.5

p.A191V

c.572C>T

1 paper

NM_020708.5

p.E201G

c.602A>G

1 paper

NM_020708.5

p.E201D

c.603A>C

1 paper

NM_020708.5

p.E201D

c.603A>T

1 paper

NM_020708.5

p.L204_A205Splc

c.612+2T>G

1 paper

NM_020708.5

p.G178S

c.532G>A

1 paper

NM_020708.5

p.M167I

c.501G>A

1 paper

NM_020708.5

p.M167I

c.501G>C

1 paper

NM_020708.5

p.M167I

c.501G>T

1 paper

NM_020708.5

p.Y166S

c.497A>C

1 paper

NM_020708.5

p.G162G

c.486T>C

1 paper

NM_020708.5

p.A161Splc

c.481+5G>A