Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V235A

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
26 papers
NM_004183.4
p.V235A
c.704T>C
Surrounding Variants
14 papers
NM_004183.4
p.V235M
c.703G>A
14 papers
NM_004183.4
p.V235L
c.703G>C
13 papers
NM_004183.4
p.V235L
c.703G>T
30 papers
NM_004183.4
p.Y236C
c.707A>G
12 papers
NM_004183.4
p.L234P
c.701T>C
6 papers
NM_004183.4
p.L234V
c.700C>G
3 papers
NM_004183.4
p.T237S
c.709A>T
5 papers
NM_004183.4
p.P233Q
c.698C>A
20 papers
NM_004183.4
p.T237R
c.710C>G
1 paper
NM_004183.4
p.P233R
c.698C>G
9 papers
NM_004183.4
p.P233L
c.698C>T
2 papers
NM_004183.4
p.Q238delFs
c.712delC
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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."