Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.C23insFs

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.C23insFs
c.69dupC
Surrounding Variants
1 paper
NM_004183.4
p.C23C
c.69C>T
1 paper
NM_004183.4
p.L22L
c.66G>A
1 paper
NM_004183.4
p.C23insFs
c.67dupT
1 paper
NM_004183.4
p.L22L
c.66G>T
2 papers
NM_004183.4
p.W24R
c.70T>A
2 papers
NM_004183.4
p.W24R
c.70T>C
1 paper
NM_004183.4
p.W24insFs
c.71dupG
4 papers
NM_004183.4
p.W24*
c.71G>A
1 paper
NM_004183.4
p.L22P
c.65T>C
1 paper
NM_004183.4
p.L22insFs
c.65dupT
4 papers
NM_004183.4
p.W24*
c.72G>A
19 papers
NM_004183.4
p.W24C
c.72G>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."