Varaico: Literature-Extracted Genetic Variants

Gene:BEND3
Variant:p.R308H

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.R308H
c.923G>A
Surrounding Variants
1 paper
NM_001367314.1
p.Y310D
c.928T>G
1 paper
NM_001367314.1
p.E327K
c.979G>A
1 paper
NM_001367314.1
p.N333N
c.999C>T
1 paper
NM_001367314.1
p.D265fs
c.793_794fs
1 paper
NM_001367314.1
p.S351C
c.1051A>T
1 paper
NM_001367314.1
p.D265delFs
c.793delC
1 paper
NM_001367314.1
p.A251S
c.751G>T
1 paper
NM_001367314.1
p.P365P
c.1095C>T
1 paper
NM_001367314.1
p.S232_P233insFs
c.694_698dup5
1 paper
NM_001367314.1
p.A387T
c.1159G>A
1 paper
NM_001367314.1
p.P190fs
c.568_569fs
2 papers
NM_001367314.1
p.G183R
c.547G>C
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