Varaico: Literature-Extracted Genetic Variants

Gene:SLC8B1
Variant:p.G288Splc

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.G288Splc
c.862+8C>T
Surrounding Variants
1 paper
NM_001358345.2
p.S273T
c.817T>A
1 paper
NM_001358345.2
p.S271A
c.811T>G
1 paper
NM_001358345.2
p.L294Q
c.881T>A
1 paper
NM_001358345.2
p.L309F
c.925C>T
1 paper
NM_001358345.2
p.D351V
c.1052A>T
1 paper
NM_001358345.2
p.L358F
c.1072C>T
2 papers
NM_001358345.2
p.P367S
c.1099C>T
1 paper
NM_001358345.2
p.S376L
c.1127C>T
1 paper
NM_001358345.2
p.P264A
c.790C>G
1 paper
NM_001358345.2
p.S258A
c.772T>G
1 paper
NM_001358345.2
p.R222C
c.664C>T
1 paper
NM_001358345.2
p.S199F
c.596C>T
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