Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R313G

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
2 papers
NM_004183.4
p.R313G
c.937A>G
Surrounding Variants
9 papers
NM_004183.4
p.D312E
c.936C>A
9 papers
NM_004183.4
p.D312E
c.936C>G
1 paper
NM_004183.4
p.R313K
c.938G>A
2 papers
NM_004183.4
p.D312A
c.935A>C
2 papers
NM_004183.4
p.D312G
c.935A>G
1 paper
NM_004183.4
p.N314D
c.940A>G
45 papers
NM_004183.4
p.D312N
c.934G>A
1 paper
NM_004183.4
p.D312Y
c.934G>T
1 paper
NM_004183.4
p.N314T
c.941A>C
2 papers
NM_004183.4
p.V311V
c.933C>T
13 papers
NM_004183.4
p.V311G
c.932T>G
11 papers
NM_004183.4
p.I310T
c.929T>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."