Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L217F

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.L217F
c.651G>C
Surrounding Variants
2 papers
NM_004183.4
p.L217F
c.651G>T
24 papers
NM_004183.4
p.R218S
c.652C>A
8 papers
NM_004183.4
p.R218G
c.652C>G
88 papers
NM_004183.4
p.R218C
c.652C>T
49 papers
NM_004183.4
p.R218H
c.653G>A
NM_001139443.2
p.R158H
c.473G>A
1 paper
NM_004183.4
p.R218L
c.653G>T
1 paper
NM_004183.4
p.L217V
c.649T>G
1 paper
NM_004183.4
p.T216T
c.648C>G
11 papers
NM_004183.4
p.T216I
c.647C>T
7 papers
NM_004183.4
p.Q220*
c.658C>T
3 papers
NM_004183.4
p.Q220P
c.659A>C
1 paper
NM_004183.4
p.N215_C221del0
c.643_663del21
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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."