Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.W93R

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
5 papers
NM_004183.4
p.W93R
c.277T>C
Surrounding Variants
5 papers
NM_004183.4
p.W93R
c.277T>A
1 paper
NM_004183.4
p.W93delins
c.277_278delinsCC
1 paper
NM_004183.4
p.W93_N95delins
c.277_283delinsCGGTTGG
3 papers
NM_004183.4
p.W93*
c.278G>A
4 papers
NM_004183.4
p.W93S
c.278G>C
17 papers
NM_004183.4
p.R92H
c.275G>A
3 papers
NM_004183.4
p.W93*
c.279G>A
73 papers
NM_004183.4
p.W93C
c.279G>C
73 papers
NM_004183.4
p.W93C
c.279G>T
1 paper
NM_004183.4
p.R92L
c.275G>T
20 papers
NM_004183.4
p.R92S
c.274C>A
6 papers
NM_004183.4
p.R92G
c.274C>G
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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."