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

1 paper

NM_020708.5

p.R751C

c.2251C>T

Surrounding Variants

8 papers

NM_020708.5

p.S748del1

c.2242_2244delTCC

1 paper

NM_020708.5

p.L763L

c.2289C>T

1 paper

NM_020708.5

p.E734V

c.2201A>T

1 paper

NM_020708.5

p.H768L

c.2303A>T

1 paper

NM_020708.5

p.R777H

c.2330G>A

1 paper

NM_020708.5

p.T787A

c.2359A>G

1 paper

NM_020708.5

p.V850V

c.2550C>T

1 paper

NM_020708.5

p.R852Q

c.2555G>A

4 papers

NM_020708.5

p.R857L

c.2570G>T

NM_001134771.2

p.R880L

c.2639G>T

1 paper

NM_020708.5

p.L875L

c.2623C>T

1 paper

NM_020708.5

p.R883L

c.2648G>T

1 paper

NM_020708.5

p.V888V

c.2664C>T