Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.D302G

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
7 papers
NM_004183.4
p.D302G
c.905A>G
Surrounding Variants
22 papers
NM_004183.4
p.D302A
c.905A>C
5 papers
NM_004183.4
p.D302V
c.905A>T
12 papers
NM_004183.4
p.D302N
c.904G>A
4 papers
NM_004183.4
p.D302H
c.904G>C
1 paper
NM_004183.4
p.D302Y
c.904G>T
1 paper
NM_004183.4
p.D302E
c.906T>A
1 paper
NM_004183.4
p.D302E
c.906T>G
4 papers
NM_004183.4
p.D303N
c.907G>A
2 papers
NM_004183.4
p.D303Y
c.907G>T
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
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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."