Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Q96H

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
7 papers
NM_004183.4
p.Q96H
c.288G>T
Surrounding Variants
7 papers
NM_004183.4
p.Q96H
c.288G>C
10 papers
NM_004183.4
p.Q96R
c.287A>G
3 papers
NM_004183.4
p.Q96L
c.287A>T
3 papers
NM_004183.4
p.Y97H
c.289T>C
2 papers
NM_004183.4
p.Y97C
c.290A>G
4 papers
NM_004183.4
p.Q96E
c.286C>G
3 papers
NM_004183.4
p.Y97*
c.291C>A
4 papers
NM_004183.4
p.Y97*
c.291C>G
5 papers
NM_004183.4
p.E98K
c.292G>A
2 papers
NM_004183.4
p.E98G
c.293A>G
1 paper
NM_004183.4
p.N95Y
c.283A>T
4 papers
NM_004183.4
p.E98D
c.294G>C
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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."