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

1–12 of 409 variants

47 papers

NM_014014.5

p.S1087L

c.3260C>T

34 papers

NM_014014.5

p.R681C

c.2041C>T

28 papers

NM_014014.5

p.R681H

c.2042G>A

19 papers

NM_014014.5

p.R1090L

c.3269G>T

10 papers

NM_014014.5

p.R1090Q

c.3269G>A

8 papers

NM_014014.5

p.V683L

c.2047G>T

8 papers

NM_014014.5

p.V683L

c.2047G>C

8 papers

NM_014014.5

p.Y689C

c.2066A>G

8 papers

NM_014014.5

p.A787T

c.2359G>A

8 papers

NM_014014.5

p.Q885E

c.2653C>G

6 papers

NM_014014.5

p.V1389I

c.4165G>A

5 papers

NM_014014.5

p.I263F

c.787A>T