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.Q807_V808Splc

c.2421+52T>C

Surrounding Variants

1 paper

NM_014014.5

p.F801C

c.2402T>G

1 paper

NM_014014.5

p.R794*

c.2380C>T

8 papers

NM_014014.5

p.A787T

c.2359G>A

1 paper

NM_014014.5

p.I784V

c.2350A>G

3 papers

NM_014014.5

p.E767delFs

c.2299delC

2 papers

NM_014014.5

p.E767fs

c.2299_2300fs

1 paper

NM_014014.5

p.T759I

c.2276C>T

1 paper

NM_014014.5

p.A757V

c.2270C>T

1 paper

NM_014014.5

p.M741V

c.2221A>G

1 paper

NM_014014.5

p.D740G

c.2219A>G

1 paper

NM_014014.5

p.R739W

c.2215C>T

1 paper

NM_014014.5

p.A813S

c.2437G>T