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.S396F

c.1187C>T

Surrounding Variants

1 paper

NM_182932.3

p.D393E

c.1179C>G

1 paper

NM_182932.3

p.D393E

c.1179C>A

1 paper

NM_182932.3

p.P402S

c.1204C>T

1 paper

NM_182932.3

p.E385D

c.1155G>T

1 paper

NM_182932.3

p.E385D

c.1155G>C

1 paper

NM_182932.3

p.C411C

c.1233T>C

1 paper

NM_182932.3

p.A413A

c.1239T>A

1 paper

NM_182932.3

p.T417I

c.1250C>T

1 paper

NM_182932.3

p.K427R

c.1280A>G

2 papers

NM_182932.3

p.R355L

c.1064G>T

3 papers

NM_182932.3

p.R355H

c.1064G>A

1 paper

NM_182932.3

p.F353L

c.1059C>G