Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.D304G

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
5 papers
NM_004183.4
p.D304G
c.911A>G
Surrounding Variants
2 papers
NM_004183.4
p.D304A
c.911A>C
3 papers
NM_004183.4
p.D304V
c.911A>T
7 papers
NM_004183.4
p.D304N
c.910G>A
1 paper
NM_004183.4
p.D304E
c.912T>A
1 paper
NM_004183.4
p.D304E
c.912T>G
4 papers
NM_004183.4
p.D303E
c.909T>A
5 papers
NM_004183.4
p.F305L
c.913T>C
4 papers
NM_004183.4
p.D303E
c.909T>G
1 paper
NM_004183.4
p.D303A
c.908A>C
6 papers
NM_004183.4
p.D303G
c.908A>G
2 papers
NM_004183.4
p.D303V
c.908A>T
1 paper
NM_004183.4
p.F305Y
c.914T>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."