Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Q256R

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
1 paper
NM_001139443.2
p.Q256R
c.767A>G
Surrounding Variants
3 papers
NM_004183.4
p.Q316P
c.947A>C
1 paper
NM_004183.4
p.Q316delFs
c.948delG
2 papers
NM_004183.4
p.Q316K
c.946C>A
1 paper
NM_004183.4
p.Q316H
c.948G>C
1 paper
NM_004183.4
p.Q316H
c.948G>T
1 paper
NM_004183.4
p.Q316_V317Splc
c.948+1G>C
1 paper
NM_004183.4
p.N314T
c.941A>C
1 paper
NM_004183.4
p.N314D
c.940A>G
1 paper
NM_004183.4
p.R313K
c.938G>A
2 papers
NM_004183.4
p.R313G
c.937A>G
9 papers
NM_004183.4
p.D312E
c.936C>A
9 papers
NM_004183.4
p.D312E
c.936C>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."