Varaico: Literature-Extracted Genetic Variants

SNRNP40

33 papers

RefSeq Summary

This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre...

Pfam Domains

WD40aa 56–94UCSCWD domain, G-beta repeat

Beta-prop_NOL10_Naa 86–266UCSCNucleolar protein 10-like, N-terminal domain

WD40aa 271–313UCSCWD domain, G-beta repeat

WD40aa 317–353UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein U5 subunit 40

HGNC Previous Symbol

WDR57

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004814.3

p.G328fs

c.982_983fs

Surrounding Variants

1 paper

NM_004814.3

p.G328delFs

c.983delC

2 papers

NM_004814.3

p.L320F

c.960G>T

2 papers

NM_004814.3

p.L320F

c.960G>C

1 paper

NM_004814.3

p.I342Splc

c.1024+2T>G

1 paper

NM_004814.3

p.D306N

c.916G>A

1 paper

NM_004814.3

p.A301G

c.902C>G

1 paper

NM_004814.3

p.Q278*

c.832C>T

1 paper

NM_004814.3

p.R265P

c.794G>C

1 paper

NM_004814.3

p.M255L

c.763A>T

1 paper

NM_004814.3

p.M255L

c.763A>C

1 paper

NM_004814.3

p.N253I

c.758A>T