Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.E213del1

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
2 papers
NM_004183.4
p.E213del1
c.637_639delGAG
Surrounding Variants
1 paper
NM_004183.4
p.N212_E213Splc
c.637-1G>A
1 paper
NM_004183.4
p.N212_E213Splc
c.637-6C>T
3 papers
NM_004183.4
p.E213K
c.637G>A
10 papers
NM_004183.4
p.E213G
c.638A>G
1 paper
NM_004183.4
p.M214T
c.641T>C
1 paper
NM_004183.4
p.N215_C221del0
c.643_663del21
11 papers
NM_004183.4
p.T216I
c.647C>T
1 paper
NM_004183.4
p.T216T
c.648C>G
1 paper
NM_004183.4
p.N212_E213Splc
c.637-18C>G
1 paper
NM_004183.4
p.L217V
c.649T>G
2 papers
NM_004183.4
p.L217F
c.651G>C
2 papers
NM_004183.4
p.L217F
c.651G>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."