Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.P260fs

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
3 papers
NM_004183.4
p.P260fs
c.778_779fs
Surrounding Variants
1 paper
NM_004183.4
p.N259_P260insFs
c.777_778insAA
5 papers
NM_004183.4
p.P260delFs
c.779delC
2 papers
NM_001139443.2
p.A201T
c.601G>A
NM_004183.4
p.A261T
c.781G>A
1 paper
NM_001139443.2
p.L198L
c.592C>T
1 paper
NM_004183.4
p.A263delFs
c.789delC
1 paper
NM_004183.4
p.F257insFs
c.769_770insC
1 paper
NM_004183.4
p.A263V
c.788C>T
2 papers
NM_004183.4
p.Q256H
c.768G>T
4 papers
NM_004183.4
p.Q256R
c.767A>G
1 paper
NM_004183.4
p.Q256delFs
c.768delG
1 paper
NM_004183.4
p.Q256delFs
c.767_768delAG
1 paper
NM_004183.4
p.Y264F
c.791A>T
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