Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.A263V

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.A263V
c.788C>T
Surrounding Variants
1 paper
NM_004183.4
p.A263delFs
c.789delC
1 paper
NM_004183.4
p.Y264F
c.791A>T
1 paper
NM_004183.4
p.P265delFs
c.795delT
2 papers
NM_001139443.2
p.A201T
c.601G>A
NM_004183.4
p.A261T
c.781G>A
2 papers
NM_004183.4
p.G266delFs
c.798delC
3 papers
NM_004183.4
p.P260fs
c.778_779fs
1 paper
NM_004183.4
p.N259_P260insFs
c.777_778insAA
1 paper
NM_004183.4
p.H267insFs
c.799_800insG
1 paper
NM_004183.4
p.H267fs
c.799_800fs
5 papers
NM_004183.4
p.P260delFs
c.779delC
1 paper
NM_004183.4
p.E268delFs
c.804delG
1 paper
NM_001139443.2
p.L198L
c.592C>T
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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."