Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V240_T241del2

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.V240_T241del2
c.718_722del6
Surrounding Variants
1 paper
NM_004183.4
p.V240M
c.718G>A
1 paper
NM_004183.4
p.V239A
c.716T>C
2 papers
NM_004183.4
p.V239delFs
c.717delG
24 papers
NM_004183.4
p.V239M
c.715G>A
1 paper
NM_004183.4
p.V239L
c.715G>C
1 paper
NM_004183.4
p.V239L
c.715G>T
1 paper
NM_004183.4
p.V240V
c.720G>C
1 paper
NM_004183.4
p.V240ins0
c.718_720dupGTG
9 papers
NM_004183.4
p.T241N
c.722C>A
1 paper
NM_004183.4
p.T241S
c.722C>G
1 paper
NM_004183.4
p.Q238_V239Splc
c.715-3C>T
1 paper
NM_004183.4
p.T241I
c.722C>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."