Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V9L

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.V9L
c.25G>C
Surrounding Variants
22 papers
NM_004183.4
p.V9M
c.25G>A
1 paper
NM_004183.4
p.V9insFs
c.26dupT
6 papers
NM_004183.4
p.V9L
c.25G>T
1 paper
NM_004183.4
p.V9insFs
c.25dupG
1 paper
NM_004183.4
p.V9E
c.26T>A
15 papers
NM_004183.4
p.V9A
c.26T>C
4 papers
NM_004183.4
p.V9G
c.26T>G
1 paper
NM_004183.4
p.V9V
c.27G>A
1 paper
NM_004183.4
p.Q8*
c.22C>T
28 papers
NM_004183.4
p.A10T
c.28G>A
1 paper
NM_004183.4
p.A10P
c.28G>C
2 papers
NM_004183.4
p.A10insFs
c.29dupC
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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."