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

9 papers

NM_020708.5

p.W318S

c.953G>C

Surrounding Variants

1 paper

NM_020708.5

p.W318R

c.952T>C

1 paper

NM_020708.5

p.C322S

c.964T>A

1 paper

NM_020708.5

p.C322S

c.965G>C

10 papers

NM_020708.5

p.S323P

c.967T>C

3 papers

NM_020708.5

p.N328S

c.983A>G

1 paper

NM_020708.5

p.C331S

c.991T>A

11 papers

NM_020708.5

p.C302*

c.906T>A

1 paper

NM_020708.5

p.C302S

c.905G>C

1 paper

NM_020708.5

p.C302S

c.904T>A

1 paper

NM_001134771.2

p.R315S

c.943C>A

1 paper

NM_020708.5

p.L289M

c.865C>A

1 paper

NM_020708.5

p.G348insFs

c.1043_1044ins5