Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.M1_T2insFs

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
2 papers
NM_004183.4
p.M1_T2insFs
c.3_4insT
Surrounding Variants
1 paper
NM_004183.4
p.M1I
c.3G>A
3 papers
NM_004183.4
p.T2insFs
c.4dupA
1 paper
NM_004183.4
p.T2P
c.4A>C
5 papers
NM_004183.4
p.T2A
c.4A>G
11 papers
NM_004183.4
p.T2S
c.4A>T
1 paper
NM_004183.4
p.M1K
c.2T>A
1 paper
NM_004183.4
p.M1T
c.2T>C
1 paper
NM_004183.4
p.M1insFs
c.1_2ins4
1 paper
NM_004183.4
p.M1insFs
c.1_2ins28
1 paper
NM_004183.4
p.M1insFs
c.2dupT
4 papers
NM_004183.4
p.M1V
c.1A>G
4 papers
NM_004183.4
p.T2N
c.5C>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."