Varaico: Literature-Extracted Genetic Variants

Gene:BEND3
Variant:p.S562R

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.S562R
c.1686C>A
Surrounding Variants
1 paper
NM_001367314.1
p.S562R
c.1686C>G
1 paper
NM_001367314.1
p.S562R
c.1684A>C
1 paper
NM_001367314.1
p.R561C
c.1681C>T
1 paper
NM_001367314.1
p.D537N
c.1609G>A
1 paper
NM_001367314.1
p.K528K
c.1584G>A
1 paper
NM_001367314.1
p.G523S
c.1567G>A
1 paper
NM_001367314.1
p.K512R
c.1535A>G
1 paper
NM_001367314.1
p.S502del1
c.1504_1506delGGA
3 papers
NM_001367314.1
p.N627H
c.1879A>C
1 paper
NM_001367314.1
p.P494L
c.1481C>T
1 paper
NM_001367314.1
p.R652H
c.1955G>A
1 paper
NM_001367314.1
p.A467V
c.1400C>T
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