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.K864R

c.2591A>G

Surrounding Variants

2 papers

NM_014014.5

p.G865S

c.2593G>A

1 paper

NM_014014.5

p.G865D

c.2594G>A

3 papers

NM_014014.5

p.G867S

c.2599G>A

3 papers

NM_014014.5

p.Q860H

c.2580G>T

3 papers

NM_014014.5

p.Q860H

c.2580G>C

1 paper

NM_014014.5

p.P859S

c.2575C>T

1 paper

NM_014014.5

p.M852_L853delFs

c.2556_2557delGC

1 paper

NM_014014.5

p.L876L

c.2626C>T

8 papers

NM_014014.5

p.Q885E

c.2653C>G

1 paper

NM_014014.5

p.I905I

c.2715C>T

1 paper

NM_014014.5

p.V910I

c.2728G>A

1 paper

NM_014014.5

p.Q911H

c.2733G>T