Varaico: Literature-Extracted Genetic Variants

Gene:PRPF38A
Variant:p.V48A

PRPF38A

27 papers

Pfam Domains

PRP38aa 10–175UCSCPRP38 family
PRP38_assocaa 179–262UCSCPre-mRNA-splicing factor 38-associated hydrophilic C-term

Gene Aliases

HGNC Name

pre-mRNA processing factor 38A

HGNC Alias Symbols

FLJ14936; Prp38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032864.4
p.V48A
c.143T>C
Surrounding Variants
1 paper
NM_032864.4
p.D49A
c.146A>C
1 paper
NM_032864.4
p.E45A
c.134A>C
1 paper
NM_032864.4
p.E53A
c.158A>C
2 papers
NM_032864.4
p.E83Q
c.247G>C
1 paper
NM_032864.4
p.E83A
c.248A>C
1 paper
NM_032864.4
p.T43fs
c.127_128fs
1 paper
NM_032864.4
p.Q18*
c.52C>T
1 paper
NM_032864.4
p.S132I
c.395G>T
1 paper
NM_032864.4
p.D145A
c.434A>C
1 paper
NM_032864.4
p.E146A
c.437A>C
1 paper
NM_032864.4
p.E172K
c.514G>A
1 paper
NM_032864.4
p.E199G
c.596A>G
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