Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.N99K

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
16 papers
NM_004183.4
p.N99K
c.297C>G
Surrounding Variants
16 papers
NM_004183.4
p.N99K
c.297C>A
4 papers
NM_004183.4
p.N99H
c.295A>C
6 papers
NM_004183.4
p.N99D
c.295A>G
6 papers
NM_004183.4
p.N99Y
c.295A>T
11 papers
NM_004183.4
p.L100R
c.299T>G
4 papers
NM_004183.4
p.E98D
c.294G>C
4 papers
NM_004183.4
p.E98D
c.294G>T
1 paper
NM_004183.4
p.P101_L106del6
c.301_317del18
2 papers
NM_004183.4
p.E98G
c.293A>G
16 papers
NM_004183.4
p.P101T
c.301C>A
1 paper
NM_004183.4
p.P101Q
c.302C>A
5 papers
NM_004183.4
p.P101R
c.302C>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."