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.G488A

c.1463G>C

Surrounding Variants

2 papers

NM_205850.3

p.I489insFs

c.1467dupT

1 paper

NM_205850.3

p.I489V

c.1465A>G

1 paper

NM_205850.3

p.L487F

c.1459C>T

1 paper

NM_205850.3

p.E486K

c.1456G>A

2 papers

NM_205850.3

p.E486*

c.1456G>T

1 paper

NM_205850.3

p.G491R

c.1471G>A

1 paper

NM_205850.3

p.G491R

c.1471G>C

1 paper

NM_205850.3

p.L481S

c.1442T>C

1 paper

NM_205850.3

p.A479T

c.1435G>A

1 paper

NM_205850.3

p.L478I

c.1432C>A

1 paper

NM_205850.3

p.G477E

c.1430G>A

1 paper

NM_205850.3

p.C471G

c.1411T>G