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.P13P

c.39G>C

Surrounding Variants

1 paper

NM_004814.3

p.P10Q

c.29C>A

1 paper

NM_004814.3

p.V17G

c.50T>G

1 paper

NM_004814.3

p.P10S

c.28C>T

1 paper

NM_004814.3

p.R21R

c.63G>A

1 paper

NM_004814.3

p.H22R

c.65A>G

1 paper

NM_004814.3

p.L24W

c.71T>G

1 paper

NM_004814.3

p.M1L

c.1A>C

1 paper

NM_004814.3

p.Q38H

c.114G>T

1 paper

NM_004814.3

p.Q38H

c.114G>C

1 paper

NM_004814.3

p.A47_G48Splc

c.142-108C>T

1 paper

NM_004814.3

p.L81insFs

c.241dupT

1 paper

NM_004814.3

p.N101D

c.301A>G