Varaico: Literature-Extracted Genetic Variants

Gene:BEST4
Variant:p.Y236C

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.Y236C
c.707A>G
Surrounding Variants
1 paper
NM_153274.3
p.S231G
c.691A>G
1 paper
NM_153274.3
p.I230T
c.689T>C
1 paper
NM_153274.3
p.W229*
c.687G>A
1 paper
NM_153274.3
p.W229*
c.686G>A
2 papers
NM_153274.3
p.Y227N
c.679T>A
1 paper
NM_153274.3
p.V239M
c.715G>A
5 papers
NM_153274.3
p.A243V
c.728C>T
1 paper
NM_153274.3
p.V244I
c.730G>A
1 paper
NM_153274.3
p.P260L
c.779C>T
1 paper
NM_153274.3
p.Y287F
c.860A>T
1 paper
NM_153274.3
p.L207fs
c.619_620fs
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."