Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Q256delFs

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.Q256delFs
c.767_768delAG
Surrounding Variants
4 papers
NM_004183.4
p.Q256R
c.767A>G
1 paper
NM_004183.4
p.Q256delFs
c.768delG
11 papers
NM_004183.4
p.R255Q
c.764G>A
2 papers
NM_004183.4
p.Q256H
c.768G>T
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
1 paper
NM_004183.4
p.F257insFs
c.769_770insC
1 paper
NM_004183.4
p.R255delFs
c.763delC
1 paper
NM_001139443.2
p.L198L
c.592C>T
4 papers
NM_004183.4
p.G254delFs
c.762delG
1 paper
NM_004183.4
p.V253A
c.758T>C
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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."