Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.W287R

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
1 paper
NM_004183.4
p.W287R
c.859T>C
Surrounding Variants
12 papers
NM_004183.4
p.W287*
c.860G>A
12 papers
NM_004183.4
p.W287*
c.861G>A
1 paper
NM_004183.4
p.K289*
c.865A>T
2 papers
NM_004183.4
p.V285I
c.853G>A
12 papers
NM_004183.4
p.Y284C
c.851A>G
NM_001139443.2
p.Y224C
c.671A>G
1 paper
NM_004183.4
p.Y284F
c.851A>T
1 paper
NM_001139443.2
p.Y224insFs
c.670_671insA
1 paper
NM_004183.4
p.F283L
c.849C>A
1 paper
NM_004183.4
p.F283L
c.849C>G
6 papers
NM_004183.4
p.K289_V290Splc
c.867+4G>A
1 paper
NM_004183.4
p.K289_V290Splc
c.867+4G>C
1 paper
NM_004183.4
p.F283L
c.847T>C
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