Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.W94C

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.W94C
c.282G>C
Surrounding Variants
2 papers
NM_004183.4
p.W94C
c.282G>T
1 paper
NM_004183.4
p.N95Y
c.283A>T
2 papers
NM_004183.4
p.W94L
c.281G>T
5 papers
NM_004183.4
p.Q96_L100del0
c.287_298del12
1 paper
NM_004183.4
p.W94delFs
c.281delG
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
4 papers
NM_004183.4
p.Q96E
c.286C>G
3 papers
NM_004183.4
p.W93*
c.278G>A
4 papers
NM_004183.4
p.W93S
c.278G>C
10 papers
NM_004183.4
p.Q96R
c.287A>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."