Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R130L

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
8 papers
NM_004183.4
p.R130L
c.389G>T
Surrounding Variants
10 papers
NM_004183.4
p.R130S
c.388C>A
5 papers
NM_004183.4
p.Y131C
c.392A>G
1 paper
NM_004183.4
p.R130delFs
c.388delC
1 paper
NM_004183.4
p.Y131*
c.393C>A
1 paper
NM_004183.4
p.Y131*
c.393C>G
1 paper
NM_004183.4
p.A132V
c.395C>T
1 paper
NM_004183.4
p.L128I
c.382C>A
2 papers
NM_004183.4
p.N133H
c.397A>C
3 papers
NM_004183.4
p.N133D
c.397A>G
1 paper
NM_004183.4
p.N133delFs
c.399delC
1 paper
NM_004183.4
p.T127R
c.380C>G
2 papers
NM_004183.4
p.T127M
c.380C>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."