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.K395R

c.1184A>G

Surrounding Variants

1 paper

NM_205850.3

p.A399T

c.1195G>A

1 paper

NM_205850.3

p.M400I

c.1200G>A

2 papers

NM_205850.3

p.S401F

c.1202C>T

1 paper

NM_205850.3

p.N402N

c.1206C>T

1 paper

NM_205850.3

p.I403L

c.1207A>C

1 paper

NM_205850.3

p.S406F

c.1217C>T

1 paper

NM_205850.3

p.N407S

c.1220A>G

1 paper

NM_205850.3

p.C413delFs

c.1237delT

1 paper

NM_205850.3

p.C413fs

c.1237_1238fs

1 paper

NM_205850.3

p.A423T

c.1267G>A

1 paper

NM_205850.3

p.A429S

c.1285G>T

1 paper

NM_205850.3

p.S435R

c.1303A>C