Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.E35del1

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.E35del1
c.103_104delGAG
Surrounding Variants
16 papers
NM_004183.4
p.G34G
c.102C>T
11 papers
NM_004183.4
p.E35K
c.103G>A
1 paper
NM_004183.4
p.E35fs
c.103_104fs
1 paper
NM_004183.4
p.E35A
c.104A>C
1 paper
NM_004183.4
p.G34_F36del0
c.101_106del6
1 paper
NM_004183.4
p.E35D
c.105G>C
1 paper
NM_004183.4
p.E35D
c.105G>T
1 paper
NM_004183.4
p.Y33*
c.99T>A
1 paper
NM_004183.4
p.Y33*
c.99T>G
5 papers
NM_004183.4
p.Y33H
c.97T>C
12 papers
NM_004183.4
p.L37L
c.109T>C
4 papers
NM_004183.4
p.L32P
c.95T>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."