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

5 papers

NM_205850.3

p.P299S

c.895C>T

Surrounding Variants

1 paper

NM_205850.3

p.P299T

c.895C>A

1 paper

NM_205850.3

p.P299delFs

c.896delC

1 paper

NM_205850.3

p.S294R

c.882T>A

1 paper

NM_205850.3

p.S294R

c.882T>G

2 papers

NM_205850.3

p.K304_I306del0

c.911_916del6

1 paper

NM_205850.3

p.S294R

c.880A>C

1 paper

NM_205850.3

p.K304E

c.910A>G

1 paper

NM_205850.3

p.W308delFs

c.922delT

1 paper

NM_205850.3

p.D291Splc

c.872-3C>A

2 papers

NM_205850.3

p.W308G

c.922T>G

1 paper

NM_205850.3

p.V309L

c.925G>C

1 paper

NM_205850.3

p.V309L

c.925G>T