Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.D301N

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
14 papers
NM_004183.4
p.D301N
c.901G>A
Surrounding Variants
1 paper
NM_004183.4
p.D301A
c.902A>C
5 papers
NM_004183.4
p.D301G
c.902A>G
25 papers
NM_004183.4
p.E300D
c.900G>C
25 papers
NM_004183.4
p.E300D
c.900G>T
8 papers
NM_004183.4
p.D304del1
c.910_912delGAT
2 papers
NM_004183.4
p.D302_D304del3
c.904_911del9
2 papers
NM_004183.4
p.E300A
c.899A>C
36 papers
NM_004183.4
p.D301E
c.903T>A
1 paper
NM_004183.4
p.D301D
c.903T>C
36 papers
NM_004183.4
p.D301E
c.903T>G
19 papers
NM_004183.4
p.E300K
c.898G>A
12 papers
NM_004183.4
p.D302N
c.904G>A
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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."