Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.N212_E213Splc

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
4 papers
NM_004183.4
p.N212_E213Splc
c.636+1G>C
Surrounding Variants
6 papers
NM_004183.4
p.N212_E213Splc
c.636+1G>A
3 papers
NM_004183.4
p.L211P
c.632T>C
1 paper
NM_004183.4
p.L210delFs
c.630delG
7 papers
NM_004183.4
p.S209N
c.626G>A
5 papers
NM_004183.4
p.Q208Q
c.624G>A
1 paper
NM_004183.4
p.Q208K
c.622C>A
3 papers
NM_004183.4
p.L207H
c.620T>A
7 papers
NM_004183.4
p.L207I
c.619C>A
22 papers
NM_004183.4
p.I205T
c.614T>C
1 paper
NM_004183.4
p.L207_L211del0
c.621_632del12
2 papers
NM_004183.4
p.I205V
c.613A>G
1 paper
NM_004183.4
p.I205_S209del0
c.614_625del12
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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."