Varaico: Literature-Extracted Genetic Variants

Gene:BEST2

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
1–12 of 117 variants
4 papers
NM_017682.3
p.D312N
c.934G>A
3 papers
NM_017682.3
p.T6P
c.16A>C
3 papers
NM_017682.3
p.S79C
c.236C>G
3 papers
NM_017682.3
p.W93C
c.279G>C
3 papers
NM_017682.3
p.W93C
c.279G>T
3 papers
NM_017682.3
p.P152A
c.454C>G
3 papers
NM_017682.3
p.A243V
c.728C>T
2 papers
NM_017682.3
p.S79T
c.235T>A
2 papers
NM_017682.3
p.S79A
c.235T>G
2 papers
NM_017682.3
p.V86M
c.256G>A
2 papers
NM_017682.3
p.R92S
c.274C>A
2 papers
NM_017682.3
p.P101T
c.301C>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."