Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.G83Splc

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
Selected Variant
1 paper
NM_004183.4
p.G83Splc
c.248-12C>T
Surrounding Variants
1 paper
NM_004183.4
p.G83Splc
c.248-17C>T
1 paper
NM_004183.4
p.G83Splc
c.248-2A>G
9 papers
NM_004183.4
p.G83D
c.248G>A
7 papers
NM_004183.4
p.G83A
c.248G>C
1 paper
NM_004183.4
p.G83insFs
c.248_249insTT
1 paper
NM_004183.4
p.G83Splc
c.248-26C>T
7 papers
NM_004183.4
p.F84V
c.250T>G
1 paper
NM_004183.4
p.F84C
c.251T>G
31 papers
NM_004183.4
p.Y85H
c.253T>C
2 papers
NM_004183.4
p.Y85S
c.254A>C
1 paper
NM_004183.4
p.Y85C
c.254A>G
1 paper
NM_004183.4
p.G83Splc
c.248-32C>T
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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."