Varaico: Literature-Extracted Genetic Variants

Gene:PRPF38B
Variant:p.E400Q

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.E400Q
c.1198G>C
Surrounding Variants
1 paper
NM_018061.4
p.R411W
c.1231C>T
1 paper
NM_018061.4
p.K380R
c.1139A>G
1 paper
NM_018061.4
p.E383delFs
c.1148_1149delAG
1 paper
NM_018061.4
p.R352K
c.1055G>A
1 paper
NM_018061.4
p.S452N
c.1355G>A
1 paper
NM_018061.4
p.R343H
c.1028G>A
1 paper
NM_018061.4
p.K464R
c.1391A>G
1 paper
NM_018061.4
p.K466R
c.1397A>G
1 paper
NM_018061.4
p.S330_R331del1
c.990_992delCAG
1 paper
NM_018061.4
p.R327C
c.979C>T
1 paper
NM_018061.4
p.R323_G324delFs
c.969_972del4
1 paper
NM_018061.4
p.R319Q
c.956G>A
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