Varaico: Literature-Extracted Genetic Variants

Gene:BEST3
Variant:p.Y43H

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
4 papers
NM_032735.3
p.Y43H
c.127T>C
Surrounding Variants
1 paper
NM_032735.3
p.T13P
c.37A>C
1 paper
NM_032735.3
p.V9A
c.26T>C
1 paper
NM_032735.3
p.Y5*
c.15C>G
1 paper
NM_032735.3
p.Y5*
c.15C>A
1 paper
NM_032735.3
p.T4A
c.10A>G
1 paper
NM_032735.3
p.L54V
c.160C>G
1 paper
NM_032735.3
p.Q58fs
c.172_173fs
2 papers
NM_032735.3
p.K59fs
c.175_176fs
3 papers
NM_032735.3
p.Q58delFs
c.173delT
1 paper
NM_032735.3
p.E63Q
c.187G>C
1 paper
NM_032735.3
p.Y72Y
c.216T>C
1 paper
NM_032735.3
p.V81E
c.242T>A
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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."