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.N430fs

c.1288_1289fs

Surrounding Variants

1 paper

NM_004698.4

p.N430fs

c.1288_1289fs

1 paper

NM_004698.4

p.D429_P433delFs

c.1287_1297del11

2 papers

NM_004698.4

p.D429Y

c.1285G>T

1 paper

NM_004698.4

p.V434insFs

c.1301_1302insA

1 paper

NM_004698.4

p.T435fs

c.1303_1304fs

1 paper

NM_004698.4

p.V438L

c.1312G>C

1 paper

NM_004698.4

p.V438L

c.1312G>T

1 paper

NM_004698.4

p.K446delFs

c.1336delA

4 papers

NM_004698.4

p.R449G

c.1345C>G

1 paper

NM_004698.4

p.K463*

c.1387A>T

1 paper

NM_004698.4

p.V476M

c.1426G>A

2 papers

NM_004698.4

p.V476Splc

c.1426+1G>A