Varaico: Literature-Extracted Genetic Variants

SLC8A3

85 papers

RefSeq Summary

This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. Th...

Pfam Domains

Na_Ca_exaa 79–250UCSCSodium/calcium exchanger protein

Na_Ca_ex_Caa 253–380UCSCC-terminal extension of sodium/calcium exchanger domain

Calx-betaaa 392–527UCSCCalx-beta domain

Calx-betaaa 525–646UCSCCalx-beta domain

Na_Ca_exaa 753–918UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 8 member A3

HGNC Alias Symbol

NCX3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182932.3

p.R488S

c.1462C>A

Surrounding Variants

1 paper

NM_182932.3

p.R488P

c.1463G>C

2 papers

NM_182932.3

p.R488H

c.1463G>A

1 paper

NM_182932.3

p.V487V

c.1461C>A

1 paper

NM_182932.3

p.I489T

c.1466T>C

1 paper

NM_182932.3

p.S485C

c.1453A>T

1 paper

NM_182932.3

p.M498I

c.1494G>T

1 paper

NM_182932.3

p.M498I

c.1494G>C

1 paper

NM_182932.3

p.M498I

c.1494G>A

1 paper

NM_182932.3

p.D472N

c.1414G>A

1 paper

NM_182932.3

p.P509L

c.1526C>T

1 paper

NM_182932.3

p.P516R

c.1547C>G

1 paper

NM_182932.3

p.D526N

c.1576G>A