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.E488E

c.1464A>G

Surrounding Variants

7 papers

NM_004698.4

p.A489D

c.1466C>A

16 papers

NM_004698.4

p.P493S

c.1477C>T

3 papers

NM_004698.4

p.P493L

c.1478C>T

2 papers

NM_004698.4

p.T494A

c.1480A>G

1 paper

NM_004698.4

p.T494R

c.1481C>G

67 papers

NM_004698.4

p.T494M

c.1481C>T

1 paper

NM_004698.4

p.N480Y

c.1438A>T

1 paper

NM_004698.4

p.A498P

c.1492G>C

1 paper

NM_004698.4

p.S479T

c.1435T>A

1 paper

NM_004698.4

p.H499P

c.1496A>C

1 paper

NM_004698.4

p.V476Splc

c.1427-2A>G

1 paper

NM_004698.4

p.A502P

c.1504G>C