Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.T307I

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.T307I
c.920C>T
Surrounding Variants
1 paper
NM_017682.3
p.E306A
c.917A>C
1 paper
NM_017682.3
p.D304A
c.911A>C
1 paper
NM_017682.3
p.D303E
c.909T>A
1 paper
NM_017682.3
p.D303E
c.909T>G
1 paper
NM_017682.3
p.D303A
c.908A>C
4 papers
NM_017682.3
p.D312N
c.934G>A
1 paper
NM_017682.3
p.D302A
c.905A>C
1 paper
NM_017682.3
p.D312A
c.935A>C
2 papers
NM_017682.3
p.D301E
c.903C>A
2 papers
NM_017682.3
p.D301E
c.903C>G
1 paper
NM_017682.3
p.D301A
c.902A>C
2 papers
NM_017682.3
p.E300D
c.900G>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."