Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.A49T

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.A49T
c.145G>A
Surrounding Variants
1 paper
NM_017682.3
p.R51H
c.152G>A
1 paper
NM_017682.3
p.R34L
c.101G>T
1 paper
NM_017682.3
p.L32M
c.94C>A
1 paper
NM_017682.3
p.S27R
c.81C>A
1 paper
NM_017682.3
p.S27R
c.81C>G
1 paper
NM_017682.3
p.S27R
c.79A>C
1 paper
NM_017682.3
p.R25H
c.74G>A
1 paper
NM_017682.3
p.W24*
c.71G>A
1 paper
NM_017682.3
p.R8Q
c.23G>A
3 papers
NM_017682.3
p.T6P
c.16A>C
1 paper
NM_017682.3
p.Y5*
c.15C>A
1 paper
NM_017682.3
p.Y5*
c.15C>G
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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."