Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.D270N

BEST2

70 papers

RefSeq Summary

This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestroph...

Pfam Domains

Bestrophinaa 1–324UCSCBestrophin, RFP-TM, chloride channel

Gene Aliases

HGNC Name

bestrophin 2

HGNC Previous Symbol

VMD2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017682.3
p.D270N
c.808G>A
Surrounding Variants
2 papers
NM_017682.3
p.V273M
c.817G>A
1 paper
NM_017682.3
p.Y284S
c.851A>C
2 papers
NM_017682.3
p.W287G
c.859T>G
3 papers
NM_017682.3
p.A243V
c.728C>T
2 papers
NM_017682.3
p.A243T
c.727G>A
2 papers
NM_017682.3
p.V239M
c.715G>A
1 paper
NM_017682.3
p.I295del1
c.883_884delATC
2 papers
NM_017682.3
p.G299E
c.896G>A
2 papers
NM_017682.3
p.E300D
c.900G>C
2 papers
NM_017682.3
p.E300D
c.900G>T
1 paper
NM_017682.3
p.D301A
c.902A>C
2 papers
NM_017682.3
p.D301E
c.903C>A
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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."