Varaico: Literature-Extracted Genetic Variants

Gene:SLC8B1
Variant:p.S468T

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
Selected Variant
2 papers
NM_001358345.2
p.S468T
c.1403G>C
Surrounding Variants
1 paper
NM_001358345.2
p.R445W
c.1333C>T
1 paper
NM_001358345.2
p.D471A
c.1412A>C
1 paper
NM_001358345.2
p.D471E
c.1413T>G
1 paper
NM_001358345.2
p.D471E
c.1413T>A
1 paper
NM_001358345.2
p.S474L
c.1421C>T
1 paper
NM_001358345.2
p.G494S
c.1480G>A
1 paper
NM_001358345.2
p.W419*
c.1257G>A
1 paper
NM_001358345.2
p.W419*
c.1256G>A
1 paper
NM_001358345.2
p.S410C
c.1229C>G
1 paper
NM_001358345.2
p.F407fs
c.1219_1220fs
1 paper
NM_001358345.2
p.F406fs
c.1216_1217fs
1 paper
NM_001358345.2
p.G502D
c.1505G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."