Varaico: Literature-Extracted Genetic Variants

Gene:SLC8B1
Variant:p.G502D

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.G502D
c.1505G>A
Surrounding Variants
1 paper
NM_001358345.2
p.K519E
c.1555A>G
1 paper
NM_001358345.2
p.G494S
c.1480G>A
1 paper
NM_001358345.2
p.S474L
c.1421C>T
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.D471A
c.1412A>C
2 papers
NM_001358345.2
p.S468T
c.1403G>C
1 paper
NM_001358345.2
p.R445W
c.1333C>T
1 paper
NM_001358345.2
p.V529I
c.1585G>A
1 paper
NM_001358345.2
p.L536I
c.1606C>A
1 paper
NM_001358345.2
p.V555del1
c.1663_1664delGAC
1 paper
NM_001358345.2
p.V555delFs
c.1664_1665delGA
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