Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R141_V143delFs

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
3 papers
NM_004183.4
p.R141_V143delFs
c.421_428del8
Surrounding Variants
1 paper
NM_004183.4
p.R141_S144del4
c.421_431del12
10 papers
NM_004183.4
p.R141S
c.421C>A
NM_001139443.2
p.R81S
c.241C>A
2 papers
NM_004183.4
p.R141C
c.421C>T
2 papers
NM_004183.4
p.R141fs
c.421_422fs
1 paper
NM_004183.4
p.L140Q
c.419T>A
3 papers
NM_004183.4
p.L140P
c.419T>C
6 papers
NM_004183.4
p.L140R
c.419T>G
20 papers
NM_004183.4
p.L140V
c.418C>G
81 papers
NM_004183.4
p.R141H
c.422G>A
NM_001139443.2
p.R81H
c.242G>A
5 papers
NM_004183.4
p.S142G
c.424A>G
1 paper
NM_004183.4
p.S142C
c.424A>T
3 papers
NM_004183.4
p.I139N
c.416T>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."