Varaico: Literature-Extracted Genetic Variants

PRPF3

223 papers

RefSeq Summary

The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently a...

Pfam Domains

PWIaa 9–78UCSCPWI domain

PRP3aa 308–521UCSCpre-mRNA processing factor 3 domain

Prp3_Caa 544–673UCSCSmall nuclear ribonucleoprotein Prp3, C-terminal domain

Gene Aliases

HGNC Name

pre-mRNA processing factor 3

HGNC Previous Symbol

RP18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004698.4

p.D98N

c.292G>A

Surrounding Variants

1 paper

NM_004698.4

p.V94fs

c.280_281fs

1 paper

NM_004698.4

p.S106_R111del6

c.316_332del18

1 paper

NM_004698.4

p.S105S

c.315A>T

2 papers

NM_004698.4

p.K110del1

c.328_330delAAG

1 paper

NM_004698.4

p.E117K

c.349G>A

1 paper

NM_004698.4

p.E120delFs

c.358_359delGA

1 paper

NM_004698.4

p.I126_P127insFs

c.378_379insGA

1 paper

NM_004698.4

p.G128_S131delFs

c.383_392del10

1 paper

NM_004698.4

p.E132K

c.394G>A

1 paper

NM_004698.4

p.Q141R

c.422A>G

1 paper

NM_004698.4

p.K88R

c.263A>G

1 paper

NM_004698.4

p.S86C

c.256A>T