Varaico: Literature-Extracted Genetic Variants

Gene:DOP1B
Variant:p.R457Splc

DOP1B

111 papers

Pfam Domains

Dopey_Naa 11–305UCSCDopey, N-terminal
TPR_DOP1_Maa 327–569UCSCDOP1 middle TPR domain
TPR_DOP1Baa 791–993UCSCDOP1B-like, TPR repeats
TPR_DOP1aa 1222–1596UCSCDOP1 TPR domain
DOP1_Caa 1765–2251UCSCDOP1 C-terminal

Gene Aliases

HGNC Name

DOP1 leucine zipper like protein B

HGNC Previous Symbol

DOPEY2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001320714.2
p.R457Splc
c.1370+7A>T
Surrounding Variants
1 paper
NM_001320714.2
p.S476L
c.1427C>T
1 paper
NM_001320714.2
p.A480T
c.1438G>A
1 paper
NM_001320714.2
p.Q410fs
c.1228_1229fs
1 paper
NM_001320714.2
p.T409delFs
c.1226_1227delCC
1 paper
NM_001320714.2
p.E515K
c.1543G>A
1 paper
NM_001320714.2
p.T526T
c.1578G>A
1 paper
NM_001320714.2
p.Q540*
c.1618C>T
1 paper
NM_001320714.2
p.P542L
c.1625C>T
1 paper
NM_001320714.2
p.E568E
c.1704A>G
1 paper
NM_001320714.2
p.G575S
c.1723G>A
1 paper
NM_001320714.2
p.I591I
c.1773C>T
1 paper
NM_001320714.2
p.S596L
c.1787C>T
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