Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.W102R

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.W102R
c.304T>A
Surrounding Variants
10 papers
NM_004183.4
p.W102R
c.304T>C
1 paper
NM_004183.4
p.W102L
c.305G>T
1 paper
NM_004183.4
p.P101Q
c.302C>A
5 papers
NM_004183.4
p.P101R
c.302C>G
8 papers
NM_004183.4
p.P101L
c.302C>T
16 papers
NM_004183.4
p.P101T
c.301C>A
1 paper
NM_004183.4
p.P101_L106del6
c.301_317del18
1 paper
NM_004183.4
p.P103P
c.309C>A
11 papers
NM_004183.4
p.L100R
c.299T>G
2 papers
NM_004183.4
p.D104N
c.310G>A
12 papers
NM_004183.4
p.D104H
c.310G>C
1 paper
NM_004183.4
p.D104Y
c.310G>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."