Varaico: Literature-Extracted Genetic Variants

Gene:BEST3
Variant:p.E653K

BEST3

79 papers

RefSeq Summary

BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MI...

Pfam Domains

Bestrophinaa 1–324UCSCBestrophin, RFP-TM, chloride channel

Gene Aliases

HGNC Name

bestrophin 3

HGNC Previous Symbol

VMD2L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032735.3
p.E653K
c.1957G>A
Surrounding Variants
1 paper
NM_032735.3
p.E622G
c.1865A>G
1 paper
NM_032735.3
p.P608L
c.1823C>T
2 papers
NM_032735.3
p.L606I
c.1816C>A
1 paper
NM_032735.3
p.R589K
c.1766G>A
1 paper
NM_032735.3
p.F586S
c.1757T>C
1 paper
NM_032735.3
p.I575T
c.1724T>C
1 paper
NM_032735.3
p.A571T
c.1711G>A
1 paper
NM_032735.3
p.S570T
c.1709G>C
1 paper
NM_032735.3
p.S568L
c.1703C>T
1 paper
NM_032735.3
p.T566K
c.1697C>A
1 paper
NM_032735.3
p.L550M
c.1648C>A
1 paper
NM_032735.3
p.G547R
c.1639G>A
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