Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.M100I

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.M100I
c.300G>A
Surrounding Variants
1 paper
NM_017682.3
p.M100I
c.300G>C
1 paper
NM_017682.3
p.M100I
c.300G>T
2 papers
NM_017682.3
p.P101T
c.301C>A
1 paper
NM_017682.3
p.L102L
c.306G>T
1 paper
NM_017682.3
p.A105P
c.313G>C
1 paper
NM_017682.3
p.Q96*
c.286C>T
1 paper
NM_017682.3
p.A105V
c.314C>T
3 papers
NM_017682.3
p.W93C
c.279G>C
3 papers
NM_017682.3
p.W93C
c.279G>T
1 paper
NM_017682.3
p.V109M
c.325G>A
2 papers
NM_017682.3
p.R92S
c.274C>A
1 paper
NM_017682.3
p.R92C
c.274C>T
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