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.R277C

c.829C>T

Surrounding Variants

1 paper

NM_004698.4

p.R277H

c.830G>A

1 paper

NM_004698.4

p.H276_R277delFs

c.828_829delCC

1 paper

NM_004698.4

p.H276fs

c.826_827fs

1 paper

NM_004698.4

p.R286H

c.857G>A

1 paper

NM_004698.4

p.A267V

c.800C>T

1 paper

NM_004698.4

p.R263delFs

c.789delC

1 paper

NM_004698.4

p.E291K

c.871G>A

1 paper

NM_004698.4

p.E291Q

c.871G>C

1 paper

NM_004698.4

p.E291A

c.872A>C

2 papers

NM_004698.4

p.F293_D304delFs

c.877_910del34

1 paper

NM_004698.4

p.E260E

c.780G>A

1 paper

NM_004698.4

p.I257insFs

c.769_770insA