Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.G15V

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.G15V
c.44G>T
Surrounding Variants
15 papers
NM_004183.4
p.G15D
c.44G>A
2 papers
NM_004183.4
p.G15S
c.43G>A
4 papers
NM_004183.4
p.G15R
c.43G>C
2 papers
NM_004183.4
p.G15insFs
c.44dupG
1 paper
NM_004183.4
p.S16insFs
c.47dupC
5 papers
NM_004183.4
p.S16Y
c.47C>A
16 papers
NM_004183.4
p.S16F
c.47C>T
3 papers
NM_004183.4
p.L14S
c.41T>C
1 paper
NM_004183.4
p.L14insFs
c.42dupA
1 paper
NM_004183.4
p.F17insFs
c.50dupT
2 papers
NM_004183.4
p.R13R
c.39C>A
1 paper
NM_004183.4
p.L14insFs
c.41dupT
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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."