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.E27D

c.81G>C

Surrounding Variants

1 paper

NM_004698.4

p.G24insFs

c.70_71insA

1 paper

NM_004698.4

p.G24C

c.70G>T

2 papers

NM_004698.4

p.V22insFs

c.64_65insT

1 paper

NM_004698.4

p.R21W

c.61A>T

1 paper

NM_004698.4

p.V19V

c.57G>A

2 papers

NM_004698.4

p.V19M

c.55G>A

2 papers

NM_004698.4

p.K17K

c.51G>A

1 paper

NM_004698.4

p.K17T

c.50A>C

1 paper

NM_004698.4

p.E16E

c.48G>A

2 papers

NM_004698.4

p.E16K

c.46G>A

1 paper

NM_004698.4

p.I15insFs

c.43_44insT

1 paper

NM_004698.4

p.K40R

c.119A>G