Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.I38S

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
8 papers
NM_004183.4
p.I38S
c.113T>G
Surrounding Variants
2 papers
NM_004183.4
p.L40_L41del2
c.118_122del6
2 papers
NM_004183.4
p.F39S
c.116T>C
12 papers
NM_004183.4
p.L37L
c.109T>C
1 paper
NM_004183.4
p.L40L
c.118C>T
10 papers
NM_004183.4
p.L40P
c.119T>C
1 paper
NM_004183.4
p.E35D
c.105G>C
1 paper
NM_004183.4
p.E35D
c.105G>T
1 paper
NM_004183.4
p.E35A
c.104A>C
36 papers
NM_004183.4
p.L41P
c.122T>C
11 papers
NM_004183.4
p.E35K
c.103G>A
1 paper
NM_004183.4
p.E35fs
c.103_104fs
16 papers
NM_004183.4
p.G34G
c.102C>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."