Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L224P

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.L224P
c.671T>C
Surrounding Variants
2 papers
NM_004183.4
p.L224Q
c.671T>A
14 papers
NM_004183.4
p.L224M
c.670C>A
1 paper
NM_004183.4
p.Y225fs
c.673_674fs
1 paper
NM_004183.4
p.A226del1
c.676_678delGCC
1 paper
NM_004183.4
p.H223_L224del1
c.668_670delACC
1 paper
NM_004183.4
p.A226T
c.676G>A
1 paper
NM_004183.4
p.A226S
c.676G>T
2 papers
NM_004183.4
p.A226V
c.677C>T
8 papers
NM_004183.4
p.G222E
c.665G>A
6 papers
NM_004183.4
p.G222V
c.665G>T
1 paper
NM_004183.4
p.G222R
c.664G>A
1 paper
NM_004183.4
p.G222R
c.664G>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."