Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R19H

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.R19H
c.56G>A
Surrounding Variants
1 paper
NM_004183.4
p.R19L
c.56G>T
8 papers
NM_004183.4
p.R19C
c.55C>T
1 paper
NM_004183.4
p.R19R
c.57C>T
1 paper
NM_004183.4
p.L20insFs
c.59dupT
7 papers
NM_004183.4
p.L20V
c.58C>G
1 paper
NM_004183.4
p.R19_L20del2
c.55_59del6
1 paper
NM_004183.4
p.L20insFs
c.60dupG
1 paper
NM_004183.4
p.L21insFs
c.61dupC
2 papers
NM_004183.4
p.S18insFs
c.53dupC
2 papers
NM_004183.4
p.S18fs
c.52_53fs
7 papers
NM_004183.4
p.S18insFs
c.52_53insT
2 papers
NM_004183.4
p.L21insFs
c.62dupT
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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."