Varaico: Literature-Extracted Genetic Variants

Gene:BEST1

BEST1

769 papers

RefSeq Summary

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may...

Pfam Domains

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

Gene Aliases

HGNC Name

bestrophin 1

HGNC Previous Symbol

VMD2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1098 variants
88 papers
NM_004183.4
p.R218C
c.652C>T
83 papers
NM_004183.4
p.A195V
c.584C>T
80 papers
NM_004183.4
p.R141H
c.422G>A
74 papers
NM_004183.4
p.A243V
c.728C>T
73 papers
NM_004183.4
p.W93C
c.279G>C
73 papers
NM_004183.4
p.W93C
c.279G>T
52 papers
NM_004183.4
p.R25W
c.73C>T
49 papers
NM_004183.4
p.R218H
c.653G>A
45 papers
NM_004183.4
p.D312N
c.934G>A
42 papers
NM_004183.4
p.Y227N
c.679T>A
36 papers
NM_004183.4
p.T6P
c.16A>C
36 papers
NM_004183.4
p.L41P
c.122T>C
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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."