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.T906A

c.2716A>G

Surrounding Variants

1 paper

NM_020708.5

p.R912H

c.2735G>A

1 paper

NM_020708.5

p.R926W

c.2776C>T

2 papers

NM_020708.5

p.T934A

c.2800A>G

1 paper

NM_001134771.2

p.E959*

c.2875G>T

1 paper

NM_020708.5

p.S937A

c.2809T>G

16 papers

NM_020708.5

p.S940A

c.2818T>G

1 paper

NM_020708.5

p.E889K

c.2665G>A

1 paper

NM_020708.5

p.V888V

c.2664C>T

1 paper

NM_020708.5

p.R952C

c.2854C>T

21 papers

NM_020708.5

p.R952H

c.2855G>A

1 paper

NM_020708.5

p.V955I

c.2863G>A

1 paper

NM_020708.5

p.R883L

c.2648G>T