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

1–12 of 176 variants

21 papers

NM_020708.5

p.R952H

c.2855G>A

20 papers

NM_020708.5

p.R1049C

c.3145C>T

16 papers

NM_020708.5

p.S940A

c.2818T>G

11 papers

NM_020708.5

p.C302*

c.906T>A

11 papers

NM_020708.5

p.M415V

c.1243A>G

11 papers

NM_020708.5

p.T906A

c.2716A>G

11 papers

NM_020708.5

p.T1007A

c.3019A>G

10 papers

NM_020708.5

p.A191V

c.572C>T

10 papers

NM_020708.5

p.S323P

c.967T>C

9 papers

NM_020708.5

p.W318S

c.953G>C

8 papers

NM_020708.5

p.S748del1

c.2242_2244delTCC

7 papers

NM_020708.5

p.L288H

c.863T>A