Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.K149R

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.K149R
c.446A>G
Surrounding Variants
5 papers
NM_004183.4
p.K149*
c.445A>T
2 papers
NM_004183.4
p.R150C
c.448C>T
1 paper
NM_001139443.2
p.Y88Y
c.264C>T
1 paper
NM_004183.4
p.Y148F
c.443A>T
6 papers
NM_004183.4
p.R150P
c.449G>C
3 papers
NM_004183.4
p.R150L
c.449G>T
2 papers
NM_004183.4
p.F151C
c.452T>G
1 paper
NM_004183.4
p.V147G
c.440T>G
2 papers
NM_004183.4
p.V147F
c.439G>T
28 papers
NM_004183.4
p.P152A
c.454C>G
2 papers
NM_004183.4
p.P152S
c.454C>T
1 paper
NM_004183.4
p.S153_L157del5
c.457_470del15
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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."