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.S119fs

c.355_356fs

Surrounding Variants

1 paper

NM_205850.3

p.A116V

c.347C>T

5 papers

NM_205850.3

p.A115E

c.344C>A

1 paper

NM_205850.3

p.M114T

c.341T>C

1 paper

NM_205850.3

p.M114delFs

c.340delA

2 papers

NM_205850.3

p.T112A

c.334A>G

16 papers

NM_205850.3

p.T111A

c.331A>G

2 papers

NM_205850.3

p.G110S

c.328G>A

2 papers

NM_205850.3

p.G110R

c.328G>C

1 paper

NM_205850.3

p.A109_S119insFs

c.327_355dup29

1 paper

NM_205850.3

p.G129Splc

c.385+2T>C

1 paper

NM_205850.3

p.G129Splc

c.385+2T>G

1 paper

NM_205850.3

p.S105_D107delFs

c.313_319del7