Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.N99Y

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
6 papers
NM_004183.4
p.N99Y
c.295A>T
Surrounding Variants
4 papers
NM_004183.4
p.N99H
c.295A>C
6 papers
NM_004183.4
p.N99D
c.295A>G
4 papers
NM_004183.4
p.E98D
c.294G>C
4 papers
NM_004183.4
p.E98D
c.294G>T
2 papers
NM_004183.4
p.E98G
c.293A>G
16 papers
NM_004183.4
p.N99K
c.297C>A
16 papers
NM_004183.4
p.N99K
c.297C>G
5 papers
NM_004183.4
p.E98K
c.292G>A
3 papers
NM_004183.4
p.Y97*
c.291C>A
4 papers
NM_004183.4
p.Y97*
c.291C>G
11 papers
NM_004183.4
p.L100R
c.299T>G
2 papers
NM_004183.4
p.Y97C
c.290A>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."