Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Y29H

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
10 papers
NM_004183.4
p.Y29H
c.85T>C
Surrounding Variants
3 papers
NM_004183.4
p.Y29C
c.86A>G
19 papers
NM_004183.4
p.Y29*
c.87C>A
19 papers
NM_004183.4
p.Y29*
c.87C>G
2 papers
NM_004183.4
p.Y29Y
c.87C>T
2 papers
NM_004183.4
p.I28N
c.83T>A
2 papers
NM_004183.4
p.I28L
c.82A>C
4 papers
NM_004183.4
p.K30E
c.88A>G
15 papers
NM_004183.4
p.K30R
c.89A>G
10 papers
NM_004183.4
p.S27R
c.81C>A
10 papers
NM_004183.4
p.S27R
c.81C>G
5 papers
NM_004183.4
p.K30N
c.90G>C
4 papers
NM_004183.4
p.S27T
c.80G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."