Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V272A

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.V272A
c.815T>C
Surrounding Variants
1 paper
NM_004183.4
p.V272I
c.814G>A
2 papers
NM_004183.4
p.V273del1
c.817_818delGTG
2 papers
NM_004183.4
p.V272_V273del1
c.816_818delTGT
3 papers
NM_004183.4
p.V273M
c.817G>A
1 paper
NM_004183.4
p.V273_P274insFs
c.819_820insT
2 papers
NM_004183.4
p.D270G
c.809A>G
18 papers
NM_004183.4
p.P274R
c.821C>G
4 papers
NM_004183.4
p.V275I
c.823G>A
1 paper
NM_004183.4
p.L269L
c.807G>C
2 papers
NM_004183.4
p.V275F
c.823G>T
1 paper
NM_004183.4
p.L269P
c.806T>C
1 paper
NM_004183.4
p.E268D
c.804G>C
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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."