Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.S7N

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
7 papers
NM_004183.4
p.S7N
c.20G>A
Surrounding Variants
1 paper
NM_004183.4
p.S7insFs
c.21dupC
2 papers
NM_004183.4
p.S7insFs
c.20dupG
1 paper
NM_004183.4
p.S7delins
c.19delinsCTCCTCCTCC
2 papers
NM_004183.4
p.T6_S7ins2
c.18_19ins6
3 papers
NM_004183.4
p.T6_S7ins3
c.18_19ins9
1 paper
NM_004183.4
p.S7delFs
c.19_20delAG
1 paper
NM_004183.4
p.Q8*
c.22C>T
1 paper
NM_004183.4
p.T6K
c.17C>A
2 papers
NM_004183.4
p.S7insFs
c.19dupA
19 papers
NM_004183.4
p.T6R
c.17C>G
3 papers
NM_004183.4
p.T6I
c.17C>T
2 papers
NM_004183.4
p.T6insFs
c.17dupC
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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."