Varaico: Literature-Extracted Genetic Variants

Gene:BEST4
Variant:p.R92C

BEST4

43 papers

RefSeq Summary

This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestroph...

Pfam Domains

Bestrophinaa 1–339UCSCBestrophin, RFP-TM, chloride channel

Gene Aliases

HGNC Name

bestrophin 4

HGNC Previous Symbol

VMD2L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153274.3
p.R92C
c.274C>T
Surrounding Variants
1 paper
NM_153274.3
p.R92G
c.274C>G
1 paper
NM_153274.3
p.R92S
c.274C>A
2 papers
NM_153274.3
p.W93C
c.279G>T
2 papers
NM_153274.3
p.W93C
c.279G>C
1 paper
NM_153274.3
p.L88F
c.262C>T
1 paper
NM_153274.3
p.V86M
c.256G>A
1 paper
NM_153274.3
p.G121D
c.362G>A
1 paper
NM_153274.3
p.V139L
c.415G>T
1 paper
NM_153274.3
p.V139L
c.415G>C
1 paper
NM_153274.3
p.P152A
c.454C>G
2 papers
NM_153274.3
p.T153A
c.457A>G
1 paper
NM_153274.3
p.P184R
c.551C>G
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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."