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.R318Q

c.953G>A

Surrounding Variants

1 paper

NM_182932.3

p.R314G

c.940A>G

1 paper

NM_182932.3

p.E337*

c.1009G>T

1 paper

NM_182932.3

p.D298N

c.892G>A

1 paper

NM_182932.3

p.H295fs

c.883_884fs

1 paper

NM_182932.3

p.S294_H295insFs

c.882_883insT

1 paper

NM_182932.3

p.M292I

c.876G>T

1 paper

NM_182932.3

p.M292I

c.876G>C

1 paper

NM_182932.3

p.M292I

c.876G>A

1 paper

NM_182932.3

p.A352T

c.1054G>A

1 paper

NM_182932.3

p.F353L

c.1057T>C

1 paper

NM_182932.3

p.F353L

c.1059C>G

1 paper

NM_182932.3

p.F353L

c.1059C>A