Varaico: Literature-Extracted Genetic Variants

Gene:SLC8B1
Variant:p.D153A

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
1 paper
NM_001358345.2
p.D153A
c.458A>C
Surrounding Variants
1 paper
NM_001358345.2
p.P152A
c.454C>G
1 paper
NM_001358345.2
p.S156G
c.466A>G
1 paper
NM_001358345.2
p.G176A
c.527G>C
1 paper
NM_001358345.2
p.V185delFs
c.555delC
1 paper
NM_001358345.2
p.G187G
c.561A>T
1 paper
NM_001358345.2
p.S199F
c.596C>T
1 paper
NM_001358345.2
p.P124S
c.370C>T
1 paper
NM_001358345.2
p.R222C
c.664C>T
1 paper
NM_001358345.2
p.G115*
c.343G>T
1 paper
NM_001358345.2
p.L102V
c.304C>G
1 paper
NM_001358345.2
p.S94G
c.280A>G
1 paper
NM_001358345.2
p.I87T
c.260T>C
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."