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.N1329S

c.3986A>G

Surrounding Variants

1 paper

NM_014014.5

p.Q1334R

c.4001A>G

1 paper

NM_014014.5

p.D1323G

c.3968A>G

2 papers

NM_014014.5

p.A1311V

c.3932C>T

1 paper

NM_014014.5

p.L1304M

c.3910C>A

1 paper

NM_014014.5

p.P1292L

c.3875C>T

1 paper

NM_014014.5

p.L1289R

c.3866T>G

1 paper

NM_014014.5

p.E1279K

c.3835G>A

1 paper

NM_014014.5

p.R1274C

c.3820C>T

1 paper

NM_014014.5

p.V1270M

c.3808G>A

1 paper

NM_014014.5

p.R1269*

c.3805C>T

1 paper

NM_014014.5

p.H1236R

c.3707A>G

1 paper

NM_014014.5

p.S1230S

c.3690C>T