Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.E213G

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.E213G
c.638A>G
Surrounding Variants
1 paper
NM_017682.3
p.G222E
c.665G>A
2 papers
NM_017682.3
p.Y227N
c.679T>A
1 paper
NM_017682.3
p.Y227C
c.680A>G
1 paper
NM_017682.3
p.D228N
c.682G>A
1 paper
NM_017682.3
p.V235A
c.704T>C
2 papers
NM_017682.3
p.Y236C
c.707A>G
1 paper
NM_017682.3
p.T237R
c.710C>G
2 papers
NM_017682.3
p.V239M
c.715G>A
2 papers
NM_017682.3
p.A243T
c.727G>A
3 papers
NM_017682.3
p.A243V
c.728C>T
1 paper
NM_017682.3
p.D270N
c.808G>A
2 papers
NM_017682.3
p.V273M
c.817G>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."