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

5 papers

NM_014014.5

p.I263F

c.787A>T

Surrounding Variants

1 paper

NM_014014.5

p.D262E

c.786T>A

1 paper

NM_014014.5

p.R261W

c.781C>T

1 paper

NM_014014.5

p.D257insFs

c.769_770insA

1 paper

NM_014014.5

p.K256N

c.768G>T

1 paper

NM_014014.5

p.Q269_R270delFs

c.805_809del5

1 paper

NM_014014.5

p.Q271_L272insT

c.811_815ins3

1 paper

NM_014014.5

p.S253T

c.757T>A

1 paper

NM_014014.5

p.D278G

c.833A>G

1 paper

NM_014014.5

p.S247A

c.739T>G

1 paper

NM_014014.5

p.V245insFs

c.733dupG

2 papers

NM_014014.5

p.L244L

c.732C>T

1 paper

NM_014014.5

p.E291K

c.871G>A