Varaico: Literature-Extracted Genetic Variants

Gene:PRPF38B
Variant:p.K242N

PRPF38B

35 papers

Pfam Domains

PRP38aa 2–120UCSCPRP38 family
PRP38aa 47–231UCSCPRP38 family

Gene Aliases

HGNC Name

pre-mRNA processing factor 38B

HGNC Alias Symbol

FLJ10330

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018061.4
p.K242N
c.726A>C
Surrounding Variants
1 paper
NM_018061.4
p.K242N
c.726A>T
1 paper
NM_018061.4
p.D252Y
c.754G>T
1 paper
NM_018061.4
p.R259C
c.775C>T
1 paper
NM_018061.4
p.T209I
c.626C>T
1 paper
NM_018061.4
p.R205Q
c.614G>A
1 paper
NM_018061.4
p.R270P
c.809G>C
1 paper
NM_018061.4
p.H286_G287delFs
c.858_861del4
1 paper
NM_018061.4
p.D292H
c.874G>C
1 paper
NM_018061.4
p.E305E
c.915G>A
1 paper
NM_018061.4
p.E312K
c.934G>A
1 paper
NM_018061.4
p.R319Q
c.956G>A
1 paper
NM_018061.4
p.R323_G324delFs
c.969_972del4
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