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

1–12 of 91 variants

4 papers

NM_182932.3

p.G577S

c.1729G>A

3 papers

NM_182932.3

p.R355H

c.1064G>A

2 papers

NM_182932.3

p.R355L

c.1064G>T

2 papers

NM_182932.3

p.R488H

c.1463G>A

1 paper

NM_182932.3

p.L6W

c.17T>G

1 paper

NM_182932.3

p.V19A

c.56T>C

1 paper

NM_182932.3

p.R29Q

c.86G>A

1 paper

NM_182932.3

p.V38M

c.112G>A

1 paper

NM_182932.3

p.Q43R

c.128A>G

1 paper

NM_182932.3

p.G71R

c.211G>A

1 paper

NM_182932.3

p.A75V

c.224C>T

1 paper

NM_182932.3

p.A83S

c.247G>T