Varaico: Literature-Extracted Genetic Variants

Gene:BEST3
Variant:p.D270N

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.D270N
c.808G>A
Surrounding Variants
1 paper
NM_032735.3
p.D268Y
c.802G>T
1 paper
NM_032735.3
p.G266E
c.797G>A
1 paper
NM_032735.3
p.A265V
c.794C>T
1 paper
NM_032735.3
p.R255C
c.763C>T
1 paper
NM_032735.3
p.G254E
c.761G>A
1 paper
NM_032735.3
p.C251Y
c.752G>A
2 papers
NM_032735.3
p.A243V
c.728C>T
1 paper
NM_032735.3
p.Y236C
c.707A>G
1 paper
NM_032735.3
p.I232fs
c.694_695fs
1 paper
NM_032735.3
p.Y227N
c.679T>A
1 paper
NM_032735.3
p.R218C
c.652C>T
1 paper
NM_032735.3
p.R216G
c.646C>G
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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."