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

1–12 of 172 variants

67 papers

NM_004698.4

p.T494M

c.1481C>T

16 papers

NM_004698.4

p.P493S

c.1477C>T

7 papers

NM_004698.4

p.A489D

c.1466C>A

5 papers

NM_004698.4

p.T326A

c.976A>G

4 papers

NM_004698.4

p.R449G

c.1345C>G

3 papers

NM_004698.4

p.P493L

c.1478C>T

2 papers

NM_004698.4

p.E16K

c.46G>A

2 papers

NM_004698.4

p.K17K

c.51G>A

2 papers

NM_004698.4

p.V19M

c.55G>A

2 papers

NM_004698.4

p.V22insFs

c.64_65insT

2 papers

NM_004698.4

p.D64_K65insT

c.190_194ins3

2 papers

NM_004698.4

p.K110del1

c.328_330delAAG