Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R25R

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.R25R
c.75G>C
Surrounding Variants
23 papers
NM_004183.4
p.R25Q
c.74G>A
2 papers
NM_004183.4
p.G26S
c.76G>A
7 papers
NM_004183.4
p.G26R
c.76G>C
3 papers
NM_004183.4
p.R25P
c.74G>C
3 papers
NM_004183.4
p.R25L
c.74G>T
1 paper
NM_004183.4
p.R25R
c.73C>A
1 paper
NM_004183.4
p.R25insFs
c.74dupG
52 papers
NM_004183.4
p.R25W
c.73C>T
1 paper
NM_004183.4
p.G26D
c.77G>A
1 paper
NM_004183.4
p.G26A
c.77G>C
1 paper
NM_004183.4
p.S27insFs
c.79dupA
4 papers
NM_004183.4
p.W24*
c.72G>A
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