Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.E292V

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.E292V
c.875A>T
Surrounding Variants
16 papers
NM_004183.4
p.E292K
c.874G>A
2 papers
NM_004183.4
p.E292Q
c.874G>C
24 papers
NM_004183.4
p.Q293K
c.877C>A
1 paper
NM_004183.4
p.Q293*
c.877C>T
1 paper
NM_004183.4
p.Q293R
c.878A>G
3 papers
NM_004183.4
p.A291V
c.872C>T
1 paper
NM_004183.4
p.A291T
c.871G>A
8 papers
NM_004183.4
p.Q293H
c.879G>C
8 papers
NM_004183.4
p.Q293H
c.879G>T
1 paper
NM_004183.4
p.A291fs
c.871_872fs
9 papers
NM_004183.4
p.L294V
c.880C>G
4 papers
NM_004183.4
p.L294F
c.880C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."