Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.A243E

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
9 papers
NM_004183.4
p.A243E
c.728C>A
Surrounding Variants
75 papers
NM_004183.4
p.A243V
c.728C>T
NM_001139443.2
p.A183V
c.548C>T
35 papers
NM_004183.4
p.A243T
c.727G>A
1 paper
NM_004183.4
p.A243P
c.727G>C
1 paper
NM_004183.4
p.V244G
c.731T>G
6 papers
NM_004183.4
p.V242M
c.724G>A
1 paper
NM_004183.4
p.T241T
c.723T>G
1 paper
NM_004183.4
p.Y245insFs
c.734dupA
9 papers
NM_004183.4
p.T241N
c.722C>A
1 paper
NM_004183.4
p.T241S
c.722C>G
1 paper
NM_004183.4
p.T241I
c.722C>T
1 paper
NM_004183.4
p.V242delFs
c.725_726delTG
1 paper
NM_004183.4
p.S246delFs
c.737delG
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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."