Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.N296K

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
8 papers
NM_004183.4
p.N296K
c.888C>G
Surrounding Variants
10 papers
NM_004183.4
p.N296K
c.888C>A
24 papers
NM_004183.4
p.N296S
c.887A>G
4 papers
NM_004183.4
p.P297T
c.889C>A
14 papers
NM_004183.4
p.P297A
c.889C>G
20 papers
NM_004183.4
p.P297S
c.889C>T
27 papers
NM_004183.4
p.N296H
c.886A>C
3 papers
NM_004183.4
p.N296D
c.886A>G
1 paper
NM_004183.4
p.N296Y
c.886A>T
15 papers
NM_004183.4
p.I295T
c.884T>C
6 papers
NM_004183.4
p.F298V
c.892T>G
2 papers
NM_004183.4
p.I295L
c.883A>C
4 papers
NM_004183.4
p.I295V
c.883A>G
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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."