Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.S175_L176del1

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.S175_L176del1
c.525_527delCCT
Surrounding Variants
3 papers
NM_004183.4
p.S175delFs
c.524delG
3 papers
NM_004183.4
p.S175fs
c.523_524fs
1 paper
NM_001139443.2
p.S115_L116insFs
c.345_346ins10
1 paper
NM_004183.4
p.S175del1
c.523_524delAGC
6 papers
NM_004183.4
p.L174delFs
c.521_522delTG
NM_001139443.2
p.L114delFs
c.341_342delTG
7 papers
NM_004183.4
p.L174fs
c.520_521fs
NM_001139443.2
p.L114fs
c.340_341fs
3 papers
NM_004183.4
p.L174_L176del3
c.520_527del9
2 papers
NM_004183.4
p.P177L
c.530C>T
1 paper
NM_004183.4
p.K173*
c.517A>T
1 paper
NM_004183.4
p.K173fs
c.517_518fs
2 papers
NM_004183.4
p.H178del1
c.532_534delCAC
1 paper
NM_004183.4
p.H178Y
c.532C>T
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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."