Varaico: Literature-Extracted Genetic Variants

SLC24A5

163 papers

RefSeq Summary

This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spann...

Pfam Domains

Na_Ca_exaa 72–216UCSCSodium/calcium exchanger protein

Na_Ca_exaa 333–484UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 24 member 5

HGNC Alias Symbols

JSX; OCA6; NCKX5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_205850.3

p.Y78ins1

c.232_233insGGG

Surrounding Variants

1 paper

NM_205850.3

p.Y78*

c.234C>G

2 papers

NM_205850.3

p.I76M

c.228C>G

1 paper

NM_205850.3

p.M79I

c.237G>A

1 paper

NM_205850.3

p.L74L

c.220C>T

7 papers

NM_205850.3

p.Y72*

c.216T>A

8 papers

NM_205850.3

p.Y72*

c.216T>G

1 paper

NM_205850.3

p.Y72delFs

c.216delT

1 paper

NM_205850.3

p.I85M

c.255T>G

2 papers

NM_205850.3

p.I69V

c.205A>G

1 paper

NM_205850.3

p.E89A

c.266A>C

1 paper

NM_205850.3

p.F91Y

c.272T>A

1 paper

NM_205850.3

p.R64H

c.191G>A