Varaico: Literature-Extracted Genetic Variants

Gene:BEST4
Variant:p.S385R

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.S385R
c.1155C>A
Surrounding Variants
1 paper
NM_153274.3
p.S385R
c.1155C>G
1 paper
NM_153274.3
p.S385R
c.1153A>C
1 paper
NM_153274.3
p.E389K
c.1165G>A
1 paper
NM_153274.3
p.A404T
c.1210G>A
1 paper
NM_153274.3
p.F415L
c.1245C>A
1 paper
NM_153274.3
p.S422S
c.1266C>A
1 paper
NM_153274.3
p.V433L
c.1297G>T
1 paper
NM_153274.3
p.V433L
c.1297G>C
1 paper
NM_153274.3
p.T436N
c.1307C>A
1 paper
NM_153274.3
p.R372W
c.1114C>T
1 paper
NM_153274.3
p.Q324*
c.970C>T
1 paper
NM_153274.3
p.Y287F
c.860A>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."