Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.H178del1

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.H178del1
c.532_534delCAC
Surrounding Variants
2 papers
NM_004183.4
p.P177L
c.530C>T
1 paper
NM_004183.4
p.H178Y
c.532C>T
9 papers
NM_004183.4
p.N179del1
c.535_536delAAC
3 papers
NM_004183.4
p.H178P
c.533A>C
2 papers
NM_004183.4
p.N179D
c.535A>G
1 paper
NM_004183.4
p.N179S
c.536A>G
1 paper
NM_004183.4
p.N179delFs
c.537delC
1 paper
NM_001139443.2
p.S115_L116insFs
c.345_346ins10
1 paper
NM_004183.4
p.S175_L176del1
c.525_527delCCT
3 papers
NM_004183.4
p.S175delFs
c.524delG
3 papers
NM_004183.4
p.S175fs
c.523_524fs
1 paper
NM_004183.4
p.S175del1
c.523_524delAGC
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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."