Varaico: Literature-Extracted Genetic Variants

Gene:SLC8B1

SLC8B1

46 papers

RefSeq Summary

SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and...

Pfam Domains

Na_Ca_exaa 103–246UCSCSodium/calcium exchanger protein
Na_Ca_exaa 421–573UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 8 member B1

HGNC Previous Symbol

SLC24A6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
2 papers
NM_001358345.2
p.P367S
c.1099C>T
2 papers
NM_001358345.2
p.S468T
c.1403G>C
1 paper
NM_001358345.2
p.A11E
c.32C>A
1 paper
NM_001358345.2
p.L15P
c.44T>C
1 paper
NM_001358345.2
p.D52D
c.156C>T
1 paper
NM_001358345.2
p.R54H
c.161G>A
1 paper
NM_001358345.2
p.I87T
c.260T>C
1 paper
NM_001358345.2
p.S94G
c.280A>G
1 paper
NM_001358345.2
p.L102V
c.304C>G
1 paper
NM_001358345.2
p.G115*
c.343G>T
1 paper
NM_001358345.2
p.P124S
c.370C>T
1 paper
NM_001358345.2
p.P152A
c.454C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."