Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.P184S

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
4 papers
NM_004183.4
p.P184S
c.550C>T
Surrounding Variants
1 paper
NM_004183.4
p.W185R
c.553T>C
2 papers
NM_004183.4
p.W182R
c.544T>A
2 papers
NM_004183.4
p.W182R
c.544T>C
5 papers
NM_004183.4
p.F188S
c.563T>C
1 paper
NM_004183.4
p.N179S
c.536A>G
1 paper
NM_004183.4
p.N179delFs
c.537delC
2 papers
NM_004183.4
p.N179D
c.535A>G
3 papers
NM_004183.4
p.H178P
c.533A>C
1 paper
NM_004183.4
p.N190Y
c.568A>T
1 paper
NM_004183.4
p.H178Y
c.532C>T
9 papers
NM_004183.4
p.N179del1
c.535_536delAAC
2 papers
NM_004183.4
p.H178del1
c.532_534delCAC
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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."