Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.I230_S231del1

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.I230_S231del1
c.689_691delTTA
Surrounding Variants
1 paper
NM_004183.4
p.I230N
c.689T>A
7 papers
NM_004183.4
p.I230T
c.689T>C
4 papers
NM_004183.4
p.W229G
c.685T>G
2 papers
NM_004183.4
p.I230S
c.689T>G
3 papers
NM_004183.4
p.D228E
c.684C>A
3 papers
NM_004183.4
p.D228E
c.684C>G
9 papers
NM_004183.4
p.S231R
c.691A>C
1 paper
NM_004183.4
p.S231G
c.691A>G
15 papers
NM_004183.4
p.D228N
c.682G>A
1 paper
NM_004183.4
p.S231N
c.692G>A
8 papers
NM_004183.4
p.S231T
c.692G>C
4 papers
NM_004183.4
p.D228H
c.682G>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."