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

5 papers

NM_020708.5

p.Y1087D

c.3259T>G

Surrounding Variants

1 paper

NM_020708.5

p.Y1087F

c.3260A>T

1 paper

NM_020708.5

p.P1078A

c.3232C>G

20 papers

NM_020708.5

p.R1049C

c.3145C>T

4 papers

NM_020708.5

p.R1048W

c.3142C>T

1 paper

NM_020708.5

p.N1043_Q1044ins5

c.3127_3131ins15

2 papers

NM_001134771.2

p.E1115K

c.3343G>A

NM_020708.5

p.E1092K

c.3274G>A

1 paper

NM_020708.5

p.D1099N

c.3295G>A

1 paper

NM_020708.5

p.R1105R

c.3315C>T

1 paper

NM_020708.5

p.E1110K

c.3328G>A

1 paper

NM_020708.5

p.I1112_T1113ins5

c.3334_3338ins15

1 paper

NM_020708.5

p.S1034C

c.3100A>T

1 paper

NM_020708.5

p.D1031Y

c.3091G>T