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.P1381L

c.4142C>T

Surrounding Variants

1 paper

NM_014014.5

p.R1375C

c.4123C>T

1 paper

NM_014014.5

p.L1368L

c.4102C>T

1 paper

NM_014014.5

p.I1358V

c.4072A>G

2 papers

NM_014014.5

p.A1350fs

c.4048_4049fs

1 paper

NM_014014.5

p.G1349_A1350delFs

c.4046_4049del4

2 papers

NM_014014.5

p.A1350delFs

c.4048delC

1 paper

NM_014014.5

p.G1349fs

c.4045_4046fs

1 paper

NM_014014.5

p.V1335Splc

c.4004-1G>T

6 papers

NM_014014.5

p.V1389I

c.4165G>A

1 paper

NM_014014.5

p.D1392insFs

c.4175_4176insCA

1 paper

NM_014014.5

p.N1402S

c.4205A>G

1 paper

NM_014014.5

p.V1405M

c.4213G>A