Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R202Q

BEST1

769 papers

RefSeq Summary

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may...

Pfam Domains

Bestrophinaa 1–324UCSCBestrophin, RFP-TM, chloride channel

Gene Aliases

HGNC Name

bestrophin 1

HGNC Previous Symbol

VMD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004183.4
p.R202Q
c.605G>A
Surrounding Variants
1 paper
NM_004183.4
p.R202G
c.604C>G
17 papers
NM_004183.4
p.R202W
c.604C>T
8 papers
NM_004183.4
p.D203A
c.608A>C
32 papers
NM_004183.4
p.I201T
c.602T>C
NM_001139443.2
p.I141T
c.422T>C
1 paper
NM_004183.4
p.I201S
c.602T>G
1 paper
NM_004183.4
p.R200Q
c.599G>A
1 paper
NM_004183.4
p.R200P
c.599G>C
2 papers
NM_001139443.2
p.R140G
c.418C>G
NM_004183.4
p.R200G
c.598C>G
30 papers
NM_004183.4
p.R200*
c.598C>T
1 paper
NM_004183.4
p.I205_S209del0
c.614_625del12
2 papers
NM_004183.4
p.I205V
c.613A>G
1 paper
NM_004183.4
p.G199A
c.596G>C
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