Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L88fs

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.L88fs
c.262_263fs
Surrounding Variants
2 papers
NM_004183.4
p.L88_W93delFs
c.263_279del17
1 paper
NM_004183.4
p.L88_W94delFs
c.262_280del19
1 paper
NM_004183.4
p.L88P
c.263T>C
1 paper
NM_004183.4
p.L88L
c.264G>A
1 paper
NM_004183.4
p.T87insFs
c.259_260insG
1 paper
NM_004183.4
p.V89fs
c.265_266fs
1 paper
NM_004183.4
p.T87insFs
c.259dupA
1 paper
NM_004183.4
p.V89D
c.266T>A
11 papers
NM_004183.4
p.V89A
c.266T>C
30 papers
NM_001139443.2
p.V26M
c.76G>A
NM_004183.4
p.V86M
c.256G>A
1 paper
NM_004183.4
p.V90M
c.268G>A
2 papers
NM_004183.4
p.Y85S
c.254A>C
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