Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.G222V

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
6 papers
NM_004183.4
p.G222V
c.665G>T
Surrounding Variants
8 papers
NM_004183.4
p.G222E
c.665G>A
1 paper
NM_004183.4
p.H223_L224del1
c.668_670delACC
1 paper
NM_004183.4
p.G222R
c.664G>A
1 paper
NM_004183.4
p.G222R
c.664G>C
9 papers
NM_004183.4
p.C221W
c.663T>G
5 papers
NM_004183.4
p.C221F
c.662G>T
1 paper
NM_004183.4
p.C221R
c.661T>C
14 papers
NM_004183.4
p.L224M
c.670C>A
1 paper
NM_004183.4
p.C221del1
c.661_663delTGT
3 papers
NM_004183.4
p.Q220P
c.659A>C
2 papers
NM_004183.4
p.L224Q
c.671T>A
6 papers
NM_004183.4
p.L224P
c.671T>C
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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."