Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.T250insFs

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.T250insFs
c.749dupC
Surrounding Variants
2 papers
NM_001139443.2
p.L189L
c.565C>T
NM_004183.4
p.L249L
c.745C>T
5 papers
NM_004183.4
p.C251Y
c.752G>A
1 paper
NM_004183.4
p.F248I
c.742T>A
1 paper
NM_004183.4
p.V253I
c.757G>A
1 paper
NM_004183.4
p.V253A
c.758T>C
1 paper
NM_004183.4
p.S246N
c.737G>A
4 papers
NM_004183.4
p.G254delFs
c.762delG
1 paper
NM_004183.4
p.S246delFs
c.737delG
1 paper
NM_004183.4
p.R255delFs
c.763delC
4 papers
NM_004183.4
p.R255R
c.763C>A
34 papers
NM_004183.4
p.R255W
c.763C>T
3 papers
NM_004183.4
p.R255fs
c.763_764fs
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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."