Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.P233Q

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
5 papers
NM_004183.4
p.P233Q
c.698C>A
Surrounding Variants
1 paper
NM_004183.4
p.P233R
c.698C>G
9 papers
NM_004183.4
p.P233L
c.698C>T
8 papers
NM_004183.4
p.P233A
c.697C>G
2 papers
NM_004183.4
p.I232I
c.696C>A
6 papers
NM_004183.4
p.L234V
c.700C>G
5 papers
NM_004183.4
p.I232N
c.695T>A
12 papers
NM_004183.4
p.L234P
c.701T>C
1 paper
NM_004183.4
p.I232S
c.695T>G
2 papers
NM_004183.4
p.I232_P233insT
c.694_698ins3
1 paper
NM_004183.4
p.I232V
c.694A>G
14 papers
NM_004183.4
p.V235M
c.703G>A
14 papers
NM_004183.4
p.V235L
c.703G>C
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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."