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.S76C

c.227C>G

Surrounding Variants

1 paper

NM_004698.4

p.S82N

c.245G>A

1 paper

NM_004698.4

p.S86C

c.256A>T

1 paper

NM_004698.4

p.K88R

c.263A>G

2 papers

NM_004698.4

p.D64_K65insT

c.190_194ins3

1 paper

NM_004698.4

p.L60insFs

c.180dupC

1 paper

NM_004698.4

p.L55I

c.163C>A

1 paper

NM_004698.4

p.P53_F54ins1

c.159_160insTAA

1 paper

NM_004698.4

p.P53R

c.158C>G

1 paper

NM_004698.4

p.A48P

c.142G>C

1 paper

NM_004698.4

p.K45E

c.133A>G

1 paper

NM_004698.4

p.D43_K44insT

c.127_131ins3

1 paper

NM_004698.4

p.M42V

c.124A>G