Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.S79T

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
2 papers
NM_017682.3
p.S79T
c.235T>A
Surrounding Variants
2 papers
NM_017682.3
p.S79A
c.235T>G
1 paper
NM_017682.3
p.S79Y
c.236C>A
3 papers
NM_017682.3
p.S79C
c.236C>G
1 paper
NM_017682.3
p.F80C
c.239T>G
1 paper
NM_017682.3
p.G83C
c.247G>T
1 paper
NM_017682.3
p.Y72_A73insFs
c.216_217insA
1 paper
NM_017682.3
p.Y72C
c.215A>G
1 paper
NM_017682.3
p.V66L
c.196G>C
1 paper
NM_017682.3
p.V66L
c.196G>T
1 paper
NM_017682.3
p.L65P
c.194T>C
1 paper
NM_017682.3
p.R51H
c.152G>A
1 paper
NM_017682.3
p.A49T
c.145G>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."