Varaico: Literature-Extracted Genetic Variants

Gene:BEND3
Variant:p.N172D

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.N172D
c.514A>G
Surrounding Variants
1 paper
NM_001367314.1
p.R177Q
c.530G>A
2 papers
NM_001367314.1
p.G183R
c.547G>C
2 papers
NM_001367314.1
p.G183R
c.547G>A
1 paper
NM_001367314.1
p.P190fs
c.568_569fs
1 paper
NM_001367314.1
p.S232_P233insFs
c.694_698dup5
1 paper
NM_001367314.1
p.Q101*
c.301C>T
1 paper
NM_001367314.1
p.A251S
c.751G>T
1 paper
NM_001367314.1
p.E90*
c.268G>T
1 paper
NM_001367314.1
p.A81G
c.242C>G
1 paper
NM_001367314.1
p.D265delFs
c.793delC
1 paper
NM_001367314.1
p.D265fs
c.793_794fs
1 paper
NM_001367314.1
p.R308H
c.923G>A
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