Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L21insFs

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.L21insFs
c.61dupC
Surrounding Variants
2 papers
NM_004183.4
p.L21insFs
c.62dupT
15 papers
NM_004183.4
p.L21V
c.61C>G
1 paper
NM_004183.4
p.L20insFs
c.60dupG
1 paper
NM_004183.4
p.L20insFs
c.59dupT
7 papers
NM_004183.4
p.L20V
c.58C>G
3 papers
NM_004183.4
p.L21R
c.62T>G
1 paper
NM_004183.4
p.L21insFs
c.63dupG
1 paper
NM_004183.4
p.R19R
c.57C>T
1 paper
NM_004183.4
p.L22insFs
c.65dupT
2 papers
NM_004183.4
p.R19H
c.56G>A
1 paper
NM_004183.4
p.R19L
c.56G>T
8 papers
NM_004183.4
p.R19C
c.55C>T
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