Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L14insFs

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
1 paper
NM_004183.4
p.L14insFs
c.41dupT
Surrounding Variants
2 papers
NM_004183.4
p.R13R
c.39C>A
2 papers
NM_004183.4
p.L14delFs
c.40_41delTT
21 papers
NM_004183.4
p.R13H
c.38G>A
3 papers
NM_004183.4
p.R13P
c.38G>C
4 papers
NM_004183.4
p.R13G
c.37C>G
11 papers
NM_004183.4
p.R13C
c.37C>T
3 papers
NM_004183.4
p.L14S
c.41T>C
1 paper
NM_004183.4
p.L14insFs
c.42dupA
2 papers
NM_004183.4
p.G15insFs
c.44dupG
5 papers
NM_004183.4
p.A12D
c.35C>A
1 paper
NM_004183.4
p.A12G
c.35C>G
2 papers
NM_004183.4
p.G15S
c.43G>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."