Varaico: Literature-Extracted Genetic Variants

Gene:BEST4
Variant:p.L207fs

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.L207fs
c.619_620fs
Surrounding Variants
1 paper
NM_153274.3
p.P184R
c.551C>G
2 papers
NM_153274.3
p.T153A
c.457A>G
1 paper
NM_153274.3
p.P152A
c.454C>G
1 paper
NM_153274.3
p.V139L
c.415G>T
1 paper
NM_153274.3
p.V139L
c.415G>C
2 papers
NM_153274.3
p.Y227N
c.679T>A
1 paper
NM_153274.3
p.W229*
c.686G>A
1 paper
NM_153274.3
p.W229*
c.687G>A
1 paper
NM_153274.3
p.I230T
c.689T>C
1 paper
NM_153274.3
p.S231G
c.691A>G
1 paper
NM_153274.3
p.Y236C
c.707A>G
1 paper
NM_153274.3
p.G121D
c.362G>A
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