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.H330L

c.989A>T

Surrounding Variants

1 paper

NM_004698.4

p.K328I

c.983A>T

1 paper

NM_004698.4

p.G333D

c.998G>A

5 papers

NM_004698.4

p.T326A

c.976A>G

1 paper

NM_004698.4

p.E336G

c.1007A>G

1 paper

NM_004698.4

p.R314R

c.940C>A

1 paper

NM_004698.4

p.R314*

c.940C>T

1 paper

NM_004698.4

p.R314del1

c.940_941delCGA

1 paper

NM_004698.4

p.F311fs

c.931_932fs

1 paper

NM_004698.4

p.F310delFs

c.928delT

1 paper

NM_004698.4

p.N308insFs

c.923_924ins4

1 paper

NM_004698.4

p.S302_E303ins6

c.906_907ins18

1 paper

NM_004698.4

p.K300delFs

c.898delA