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

8 papers

NM_020708.5

p.L403P

c.1208T>C

NM_001134771.2

p.L426P

c.1277T>C

Surrounding Variants

2 papers

NM_020708.5

p.P409H

c.1226C>A

NM_001134771.2

p.P432H

c.1295C>A

1 paper

NM_001134771.2

p.T435A

c.1303A>G

1 paper

NM_020708.5

p.G413A

c.1238G>C

1 paper

NM_020708.5

p.P390P

c.1170T>A

1 paper

NM_020708.5

p.T383N

c.1148C>A

1 paper

NM_020708.5

p.T383I

c.1148C>T

6 papers

NM_020708.5

p.S376L

c.1127C>T

NM_001134771.2

p.S399L

c.1196C>T

1 paper

NM_020708.5

p.R371insFs

c.1112_1113ins5

1 paper

NM_020708.5

p.V367M

c.1099G>A

1 paper

NM_020708.5

p.G366A

c.1097G>C

1 paper

NM_020708.5

p.K365*

c.1093A>T

1 paper

NM_020708.5

p.S361P

c.1081T>C