Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.T4I

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.T4I
c.11C>T
Surrounding Variants
2 papers
NM_004183.4
p.T4N
c.11C>A
2 papers
NM_004183.4
p.Y5insFs
c.13dupT
1 paper
NM_004183.4
p.T4S
c.11C>G
2 papers
NM_004183.4
p.T4insFs
c.11dupC
8 papers
NM_004183.4
p.T4A
c.10A>G
15 papers
NM_004183.4
p.T4S
c.10A>T
1 paper
NM_004183.4
p.Y5N
c.13T>A
1 paper
NM_004183.4
p.Y5H
c.13T>C
1 paper
NM_004183.4
p.Y5D
c.13T>G
5 papers
NM_004183.4
p.I3N
c.8T>A
7 papers
NM_004183.4
p.I3T
c.8T>C
1 paper
NM_004183.4
p.I3insFs
c.9dupC
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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."