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.E1524E

c.4572G>A

Surrounding Variants

1 paper

NM_014014.5

p.P1522S

c.4564C>T

1 paper

NM_014014.5

p.S1510S

c.4530C>A

1 paper

NM_014014.5

p.K1498R

c.4493A>G

1 paper

NM_014014.5

p.N1496S

c.4487A>G

1 paper

NM_014014.5

p.Q1528_G1529Splc

c.4585-9G>C

1 paper

NM_014014.5

p.R1483Q

c.4448G>A

1 paper

NM_014014.5

p.T1537P

c.4609A>C

1 paper

NM_014014.5

p.R1538C

c.4612C>T

1 paper

NM_014014.5

p.P1545L

c.4634C>T

1 paper

NM_014014.5

p.G1464_P1465Splc

c.4393-10C>T

1 paper

NM_014014.5

p.A1573S

c.4717G>T

1 paper

NM_014014.5

p.R1588Splc

c.4764-7C>T