Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L197_G198del2

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.L197_G198del2
c.589_593del6
Surrounding Variants
3 papers
NM_004183.4
p.L197_I205delFs
c.590_615del26
3 papers
NM_004183.4
p.L197fs
c.589_590fs
84 papers
NM_004183.4
p.A195V
c.584C>T
NM_001139443.2
p.A135V
c.404C>T
3 papers
NM_004183.4
p.G199_R200del2
c.595_599del6
3 papers
NM_004183.4
p.A195ins1
c.583_584insTGG
1 paper
NM_004183.4
p.K194*
c.580A>T
1 paper
NM_004183.4
p.K194fs
c.580_581fs
1 paper
NM_004183.4
p.G199A
c.596G>C
1 paper
NM_004183.4
p.R200_P204del0
c.598_612del15
1 paper
NM_004183.4
p.M193_K194insFs
c.579_580ins4
2 papers
NM_001139443.2
p.R140G
c.418C>G
NM_004183.4
p.R200G
c.598C>G
30 papers
NM_004183.4
p.R200*
c.598C>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."