Varaico: Literature-Extracted Genetic Variants

Gene:BEST3
Variant:p.S476R

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.S476R
c.1428C>A
Surrounding Variants
1 paper
NM_032735.3
p.S476R
c.1428C>G
1 paper
NM_032735.3
p.S476R
c.1426A>C
1 paper
NM_032735.3
p.T471A
c.1411A>G
1 paper
NM_032735.3
p.M466I
c.1398G>T
2 papers
NM_032735.3
p.T461M
c.1382C>T
1 paper
NM_032735.3
p.P456L
c.1367C>T
1 paper
NM_032735.3
p.P456T
c.1366C>A
1 paper
NM_032735.3
p.G516G
c.1548G>A
1 paper
NM_032735.3
p.H520Y
c.1558C>T
1 paper
NM_032735.3
p.P408P
c.1224C>T
1 paper
NM_032735.3
p.M546delFs
c.1636delT
1 paper
NM_032735.3
p.M546fs
c.1636_1637fs
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