Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V114A

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
2 papers
NM_004183.4
p.V114A
c.341T>C
Surrounding Variants
2 papers
NM_004183.4
p.V114delFs
c.341_342delTC
6 papers
NM_004183.4
p.F113L
c.339C>A
6 papers
NM_004183.4
p.F113L
c.339C>G
3 papers
NM_004183.4
p.E115*
c.343G>T
1 paper
NM_004183.4
p.E115delFs
c.345delA
1 paper
NM_004183.4
p.F113Fs
c.338delinsAGAATATGFs
1 paper
NM_004183.4
p.F113S
c.338T>C
1 paper
NM_004183.4
p.F113C
c.338T>G
9 papers
NM_004183.4
p.E115_G116insFs
c.345_346ins10
6 papers
NM_004183.4
p.F113L
c.337T>C
1 paper
NM_004183.4
p.G116S
c.346G>A
2 papers
NM_004183.4
p.D118_G121insFs
c.353_362dup10
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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."