Varaico: Literature-Extracted Genetic Variants

SNRNP200

375 papers

RefSeq Summary

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear...

Pfam Domains

BRR2_plugaa 109–175UCSCPre-mRNA-splicing helicase BRR2 plug domain

Helicase_PWIaa 254–363UCSCN-terminal helicase PWI domain

DEADaa 482–661UCSCDEAD/DEAH box helicase

Helicase_Caa 700–860UCSCHelicase conserved C-terminal domain

WHD_SNRNP200aa 890–966UCSCWinged Helix-turn-helix domain

Sec63aa 981–1285UCSCSec63 Brl domain

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein U5 subunit 200

HGNC Previous Symbols

ASCC3L1; RP33

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014014.5

p.Y689*

c.2067T>A

Surrounding Variants

1 paper

NM_014014.5

p.Y689*

c.2067T>G

8 papers

NM_014014.5

p.Y689C

c.2066A>G

1 paper

NM_014014.5

p.G691R

c.2071G>C

8 papers

NM_014014.5

p.V683L

c.2047G>T

8 papers

NM_014014.5

p.V683L

c.2047G>C

1 paper

NM_014014.5

p.K696fs

c.2086_2087fs

1 paper

NM_014014.5

p.K696delFs

c.2088delT

2 papers

NM_014014.5

p.P682S

c.2044C>T

3 papers

NM_014014.5

p.R681L

c.2042G>T

28 papers

NM_014014.5

p.R681H

c.2042G>A

1 paper

NM_014014.5

p.I698V

c.2092A>G

34 papers

NM_014014.5

p.R681C

c.2041C>T