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

11 papers

NM_020708.5

p.M415V

c.1243A>G

Surrounding Variants

1 paper

NM_020708.5

p.P432S

c.1294C>T

1 paper

NM_020708.5

p.Y446F

c.1337A>T

1 paper

NM_020708.5

p.Y446Y

c.1338C>T

2 papers

NM_001134771.2

p.V473I

c.1417G>A

NM_020708.5

p.V450I

c.1348G>A

1 paper

NM_020708.5

p.A455P

c.1363G>C

1 paper

NM_020708.5

p.E458K

c.1372G>A

1 paper

NM_020708.5

p.G459A

c.1376G>C

1 paper

NM_020708.5

p.V461I

c.1381G>A

1 paper

NM_020708.5

p.G413A

c.1238G>C

1 paper

NM_001134771.2

p.T435A

c.1303A>G

2 papers

NM_020708.5

p.P409H

c.1226C>A

NM_001134771.2

p.P432H

c.1295C>A

8 papers

NM_020708.5

p.L403P

c.1208T>C

NM_001134771.2

p.L426P

c.1277T>C