Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.S144G

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.S144G
c.430A>G
Surrounding Variants
1 paper
NM_017682.3
p.V143V
c.429C>G
1 paper
NM_017682.3
p.R141H
c.422G>A
1 paper
NM_017682.3
p.R141S
c.421C>A
1 paper
NM_017682.3
p.L140V
c.418C>G
1 paper
NM_017682.3
p.V137M
c.409G>A
3 papers
NM_017682.3
p.P152A
c.454C>G
1 paper
NM_017682.3
p.P152S
c.454C>T
1 paper
NM_017682.3
p.Y131Y
c.393C>T
1 paper
NM_017682.3
p.L128F
c.382C>T
1 paper
NM_017682.3
p.R126C
c.376C>T
1 paper
NM_017682.3
p.G121D
c.362G>A
1 paper
NM_017682.3
p.R120S
c.358C>A
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