Varaico: Literature-Extracted Genetic Variants

Gene:DOP1A
Variant:p.V121L

DOP1A

84 papers

Pfam Domains

Dopey_Naa 11–297UCSCDopey, N-terminal
TPR_DOP1_Maa 310–556UCSCDOP1 middle TPR domain
TPR_DOP1Baa 779–982UCSCDOP1B-like, TPR repeats
TPR_DOP1aa 1354–1728UCSCDOP1 TPR domain
DOP1_Caa 1895–2419UCSCDOP1 C-terminal

Gene Aliases

HGNC Name

DOP1 leucine zipper like protein A

HGNC Previous Symbols

KIAA1117; DOPEY1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015018.4
p.V121L
c.361G>C
Surrounding Variants
1 paper
NM_015018.4
p.L126L
c.378C>T
1 paper
NM_015018.4
p.L128F
c.384G>C
1 paper
NM_015018.4
p.L128F
c.384G>T
1 paper
NM_015018.4
p.G109V
c.326G>T
1 paper
NM_015018.4
p.R164delFs
c.490delA
1 paper
NM_015018.4
p.T233I
c.698C>T
1 paper
NM_015018.4
p.V240I
c.718G>A
1 paper
NM_015018.4
p.F256L
c.768C>G
1 paper
NM_015018.4
p.L105fs
c.313_314fs
1 paper
NM_015018.4
p.L103delFs
c.308delT
1 paper
NM_015018.4
p.G95A
c.284G>C
1 paper
NM_015018.4
p.K82R
c.245A>G
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