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.W330R

c.988T>A

Surrounding Variants

1 paper

NM_205850.3

p.W330R

c.988T>C

3 papers

NM_205850.3

p.W330*

c.989G>A

3 papers

NM_205850.3

p.W330*

c.990G>A

1 paper

NM_205850.3

p.N332D

c.994A>G

1 paper

NM_205850.3

p.Y333F

c.998A>T

2 papers

NM_205850.3

p.K327insFs

c.980dupA

1 paper

NM_205850.3

p.F339C

c.1016T>G

1 paper

NM_205850.3

p.S341F

c.1022C>T

1 paper

NM_205850.3

p.L318H

c.953T>A

1 paper

NM_205850.3

p.A342S

c.1024G>T

2 papers

NM_205850.3

p.A342V

c.1025C>T

1 paper

NM_205850.3

p.I343M

c.1029A>G