Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R47delFs

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.R47delFs
c.139delC
Surrounding Variants
1 paper
NM_004183.4
p.I46N
c.137T>A
1 paper
NM_004183.4
p.I46V
c.136A>G
11 papers
NM_004183.4
p.R47C
c.139C>T
30 papers
NM_004183.4
p.R47H
c.140G>A
2 papers
NM_004183.4
p.R47L
c.140G>T
1 paper
NM_004183.4
p.R47_F48delFs
c.141_144del4
8 papers
NM_004183.4
p.Y44H
c.130T>C
1 paper
NM_004183.4
p.I49V
c.145A>G
1 paper
NM_004183.4
p.Y43C
c.128A>G
1 paper
NM_004183.4
p.I49N
c.146T>A
1 paper
NM_004183.4
p.Y50fs
c.148_149fs
2 papers
NM_004183.4
p.R51K
c.152G>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."