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.I318N

c.953T>A

Surrounding Variants

1 paper

NM_014014.5

p.N313D

c.937A>G

1 paper

NM_014014.5

p.M326V

c.976A>G

1 paper

NM_014014.5

p.M326_I328delFs

c.978_982del5

1 paper

NM_014014.5

p.L308V

c.922C>G

1 paper

NM_014014.5

p.N304delFs

c.911delT

1 paper

NM_014014.5

p.C302S

c.905G>C

1 paper

NM_014014.5

p.C302S

c.904T>A

1 paper

NM_014014.5

p.S297I

c.890G>T

1 paper

NM_014014.5

p.E291K

c.871G>A

1 paper

NM_014014.5

p.I328Splc

c.983-8G>A

1 paper

NM_014014.5

p.I328_T332del0

c.983_994del12

1 paper

NM_014014.5

p.L333W

c.998T>G