Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.W309R

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
4 papers
NM_004183.4
p.W309R
c.925T>C
Surrounding Variants
4 papers
NM_004183.4
p.W309R
c.925T>A
2 papers
NM_004183.4
p.N308K
c.924C>A
2 papers
NM_004183.4
p.N308K
c.924C>G
4 papers
NM_004183.4
p.N308S
c.923A>G
2 papers
NM_004183.4
p.N308D
c.922A>G
1 paper
NM_004183.4
p.I310V
c.928A>G
11 papers
NM_004183.4
p.I310T
c.929T>C
7 papers
NM_004183.4
p.T307N
c.920C>A
1 paper
NM_004183.4
p.T307_N308insFs
c.921_922ins4
2 papers
NM_004183.4
p.T307S
c.920C>G
17 papers
NM_004183.4
p.T307I
c.920C>T
8 papers
NM_004183.4
p.T307A
c.919A>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."