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

4 papers

NM_205850.3

p.L454*

c.1361T>A

Surrounding Variants

4 papers

NM_205850.3

p.L454*

c.1361T>G

2 papers

NM_205850.3

p.L454fs

c.1360_1361fs

3 papers

NM_205850.3

p.L454fs

c.1360_1361fs

1 paper

NM_205850.3

p.L452fs

c.1354_1355fs

6 papers

NM_205850.3

p.L454insFs

c.1361dupT

1 paper

NM_205850.3

p.L452V

c.1354C>G

1 paper

NM_205850.3

p.L452F

c.1354C>T

1 paper

NM_205850.3

p.L454delFs

c.1361delT

2 papers

NM_205850.3

p.K462_L463insFs

c.1386_1387insAA

1 paper

NM_205850.3

p.K466E

c.1396A>G

1 paper

NM_205850.3

p.T442N

c.1325C>A

1 paper

NM_205850.3

p.I469fs

c.1405_1406fs