Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.D104H

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
12 papers
NM_004183.4
p.D104H
c.310G>C
Surrounding Variants
2 papers
NM_004183.4
p.D104N
c.310G>A
1 paper
NM_004183.4
p.D104Y
c.310G>T
1 paper
NM_004183.4
p.D104A
c.311A>C
1 paper
NM_004183.4
p.P103P
c.309C>A
16 papers
NM_004183.4
p.D104E
c.312C>A
16 papers
NM_004183.4
p.D104E
c.312C>G
3 papers
NM_004183.4
p.R105S
c.313C>A
8 papers
NM_001139443.2
p.R45G
c.133C>G
NM_004183.4
p.R105G
c.313C>G
10 papers
NM_004183.4
p.R105C
c.313C>T
1 paper
NM_001139443.2
p.R45P
c.134G>C
1 paper
NM_004183.4
p.R105L
c.314G>T
1 paper
NM_004183.4
p.L106_S111del6
c.316_332del18
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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."