Varaico: Literature-Extracted Genetic Variants

Gene:PRPF39
Variant:p.N217D

PRPF39

26 papers

Pfam Domains

HAT_PRP39_Naa 82–249UCSCPRP39 N-terminal HAT repeat
HAT_PRP39_Caa 329–467UCSCPRP39 C-terminal HAT repeat

Gene Aliases

HGNC Name

pre-mRNA processing factor 39

HGNC Alias Symbols

FLJ20666; FLJ11128

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017922.4
p.N217D
c.649A>G
Surrounding Variants
3 papers
NM_017922.4
p.W215*
c.645G>A
3 papers
NM_017922.4
p.W215*
c.644G>A
1 paper
NM_017922.4
p.Q219K
c.655C>A
1 paper
NM_017922.4
p.I213I
c.639A>T
1 paper
NM_017922.4
p.D288N
c.862G>A
1 paper
NM_017922.4
p.P290Q
c.869C>A
1 paper
NM_017922.4
p.S291L
c.872C>T
1 paper
NM_017922.4
p.S291S
c.873G>A
1 paper
NM_017922.4
p.R154Q
c.461G>A
1 paper
NM_017922.4
p.H311N
c.931C>A
1 paper
NM_017922.4
p.K146*
c.436A>T
1 paper
NM_017922.4
p.F84C
c.251T>G
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