Varaico: Literature-Extracted Genetic Variants

Gene:BEND3
Variant:p.R681W

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
1 paper
NM_001367314.1
p.R681W
c.2041C>T
Surrounding Variants
1 paper
NM_001367314.1
p.E682K
c.2044G>A
1 paper
NM_001367314.1
p.E685G
c.2054A>G
1 paper
NM_001367314.1
p.P690_P691insFs
c.2070_2071ins22
1 paper
NM_001367314.1
p.P691fs
c.2071_2072fs
1 paper
NM_001367314.1
p.P691insFs
c.2073dupC
1 paper
NM_001367314.1
p.E692fs
c.2074_2075fs
1 paper
NM_001367314.1
p.D669N
c.2005G>A
1 paper
NM_001367314.1
p.S695I
c.2084G>T
1 paper
NM_001367314.1
p.R652H
c.1955G>A
1 paper
NM_001367314.1
p.S717F
c.2150C>T
3 papers
NM_001367314.1
p.N627H
c.1879A>C
1 paper
NM_001367314.1
p.H763Y
c.2287C>T
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