Varaico: Literature-Extracted Genetic Variants

Gene:BEND3
Variant:p.R776W

BEND3

52 papers

Pfam Domains

BENaa 265–340UCSCBEN domain
BENaa 409–482UCSCBEN domain
BENaa 572–647UCSCBEN domain
BENaa 738–813UCSCBEN domain

Gene Aliases

HGNC Name

BEN domain containing 3

HGNC Previous Symbol

KIAA1553

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001367314.1
p.R776W
c.2326C>T
Surrounding Variants
1 paper
NM_001367314.1
p.T775M
c.2324C>T
1 paper
NM_001367314.1
p.V784M
c.2350G>A
1 paper
NM_001367314.1
p.H763Y
c.2287C>T
1 paper
NM_001367314.1
p.E807V
c.2420A>T
1 paper
NM_001367314.1
p.R810L
c.2429G>T
1 paper
NM_001367314.1
p.R814K
c.2441G>A
1 paper
NM_001367314.1
p.S717F
c.2150C>T
1 paper
NM_001367314.1
p.S695I
c.2084G>T
1 paper
NM_001367314.1
p.E692fs
c.2074_2075fs
1 paper
NM_001367314.1
p.P691insFs
c.2073dupC
1 paper
NM_001367314.1
p.P691fs
c.2071_2072fs
1 paper
NM_001367314.1
p.P690_P691insFs
c.2070_2071ins22
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