Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V147G

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_004183.4
p.V147G
c.440T>G
Surrounding Variants
2 papers
NM_004183.4
p.V147F
c.439G>T
1 paper
NM_004183.4
p.Y148F
c.443A>T
1 paper
NM_001139443.2
p.Y88Y
c.264C>T
8 papers
NM_004183.4
p.A146T
c.436G>A
4 papers
NM_004183.4
p.A146S
c.436G>T
2 papers
NM_004183.4
p.A146delins
c.436_437delinsAA
5 papers
NM_004183.4
p.K149*
c.445A>T
1 paper
NM_004183.4
p.K149R
c.446A>G
1 paper
NM_004183.4
p.T145A
c.433A>G
1 paper
NM_004183.4
p.T145S
c.433A>T
2 papers
NM_004183.4
p.R150C
c.448C>T
7 papers
NM_004183.4
p.S144N
c.431G>A
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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."