Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.E306D

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
6 papers
NM_004183.4
p.E306D
c.918G>C
Surrounding Variants
6 papers
NM_004183.4
p.E306D
c.918G>T
1 paper
NM_004183.4
p.E306A
c.917A>C
8 papers
NM_004183.4
p.T307A
c.919A>G
6 papers
NM_004183.4
p.E306G
c.917A>G
2 papers
NM_004183.4
p.T307S
c.919A>T
7 papers
NM_004183.4
p.T307N
c.920C>A
1 paper
NM_004183.4
p.T307_N308insFs
c.921_922ins4
2 papers
NM_004183.4
p.T307S
c.920C>G
17 papers
NM_004183.4
p.T307I
c.920C>T
1 paper
NM_004183.4
p.E306K
c.916G>A
4 papers
NM_004183.4
p.E306Q
c.916G>C
5 papers
NM_004183.4
p.F305L
c.915T>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."