Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.H168H

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.H168H
c.504C>T
Surrounding Variants
1 paper
NM_004183.4
p.Q170_E172del3
c.508_515del9
1 paper
NM_004183.4
p.K169K
c.507G>A
8 papers
NM_004183.4
p.E167G
c.500A>G
1 paper
NM_004183.4
p.Q170*
c.508C>T
5 papers
NM_004183.4
p.E167K
c.499G>A
1 paper
NM_004183.4
p.E167*
c.499G>T
2 papers
NM_004183.4
p.L171delFs
c.511delT
1 paper
NM_004183.4
p.P165P
c.495G>A
1 paper
NM_004183.4
p.P165L
c.494C>T
1 paper
NM_004183.4
p.P165A
c.493C>G
3 papers
NM_004183.4
p.K173delFs
c.519delA
1 paper
NM_004183.4
p.K173*
c.517A>T
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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."