Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.A12insFs

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.A12insFs
c.34dupG
Surrounding Variants
4 papers
NM_004183.4
p.N11K
c.33T>A
4 papers
NM_004183.4
p.N11K
c.33T>G
1 paper
NM_004183.4
p.A12_F17del6
c.34_50del18
6 papers
NM_004183.4
p.N11I
c.32A>T
1 paper
NM_004183.4
p.R13insFs
c.37dupC
1 paper
NM_004183.4
p.A12delFs
c.36delC
5 papers
NM_004183.4
p.A12D
c.35C>A
1 paper
NM_004183.4
p.A12G
c.35C>G
1 paper
NM_004183.4
p.A10insFs
c.30dupT
4 papers
NM_004183.4
p.R13G
c.37C>G
18 papers
NM_004183.4
p.A10V
c.29C>T
11 papers
NM_004183.4
p.R13C
c.37C>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."