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.V833E

c.2498T>A

Surrounding Variants

1 paper

NM_014014.5

p.T825_Q832delFs

c.2473_2495del23

1 paper

NM_014014.5

p.V826V

c.2478C>T

1 paper

NM_014014.5

p.T825fs

c.2473_2474fs

1 paper

NM_014014.5

p.G845E

c.2534G>A

1 paper

NM_014014.5

p.D848N

c.2542G>A

1 paper

NM_014014.5

p.T814S

c.2441C>G

1 paper

NM_014014.5

p.T814S

c.2440A>T

1 paper

NM_014014.5

p.A813S

c.2437G>T

1 paper

NM_014014.5

p.M852_L853delFs

c.2556_2557delGC

1 paper

NM_014014.5

p.P859S

c.2575C>T

3 papers

NM_014014.5

p.Q860H

c.2580G>T

3 papers

NM_014014.5

p.Q860H

c.2580G>C