Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.S27R

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
10 papers
NM_004183.4
p.S27R
c.79A>C
Surrounding Variants
1 paper
NM_004183.4
p.S27insFs
c.79dupA
4 papers
NM_004183.4
p.S27T
c.80G>C
10 papers
NM_004183.4
p.S27R
c.81C>A
10 papers
NM_004183.4
p.S27R
c.81C>G
1 paper
NM_004183.4
p.G26D
c.77G>A
1 paper
NM_004183.4
p.G26A
c.77G>C
2 papers
NM_004183.4
p.I28L
c.82A>C
2 papers
NM_004183.4
p.G26S
c.76G>A
7 papers
NM_004183.4
p.G26R
c.76G>C
1 paper
NM_004183.4
p.R25R
c.75G>C
2 papers
NM_004183.4
p.I28N
c.83T>A
23 papers
NM_004183.4
p.R25Q
c.74G>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."