Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V90M

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.V90M
c.268G>A
Surrounding Variants
1 paper
NM_004183.4
p.V89D
c.266T>A
11 papers
NM_004183.4
p.V89A
c.266T>C
1 paper
NM_004183.4
p.R92delFs
c.274delC
1 paper
NM_004183.4
p.V89fs
c.265_266fs
12 papers
NM_004183.4
p.T91I
c.272C>T
1 paper
NM_004183.4
p.L88L
c.264G>A
1 paper
NM_004183.4
p.L88P
c.263T>C
20 papers
NM_004183.4
p.R92S
c.274C>A
6 papers
NM_004183.4
p.R92G
c.274C>G
29 papers
NM_004183.4
p.R92C
c.274C>T
1 paper
NM_004183.4
p.L88fs
c.262_263fs
2 papers
NM_004183.4
p.L88_W93delFs
c.263_279del17
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."