Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.G161Splc

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
2 papers
NM_004183.4
p.G161Splc
c.481+1G>T
Surrounding Variants
16 papers
NM_004183.4
p.G161D
c.482G>A
1 paper
NM_004183.4
p.A160G
c.479C>G
5 papers
NM_004183.4
p.A160P
c.478G>C
1 paper
NM_004183.4
p.Q159_A160insTAA
c.475_479ins9
6 papers
NM_004183.4
p.Q159*
c.475C>T
1 paper
NM_004183.4
p.V158G
c.473T>G
1 paper
NM_004183.4
p.L157insFs
c.470dupT
2 papers
NM_004183.4
p.H156Q
c.468C>A
2 papers
NM_004183.4
p.H156Q
c.468C>G
1 paper
NM_004183.4
p.S153_L157del5
c.457_470del15
28 papers
NM_004183.4
p.P152A
c.454C>G
2 papers
NM_004183.4
p.P152S
c.454C>T
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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."