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.K1146_N1147del2

c.3436_3440del6

Surrounding Variants

1 paper

NM_014014.5

p.E1144Q

c.3430G>C

2 papers

NM_014014.5

p.R1152C

c.3454C>T

1 paper

NM_014014.5

p.K1142_I1143insFs

c.3426_3427insA

1 paper

NM_014014.5

p.Y1154*

c.3462C>G

1 paper

NM_014014.5

p.M1122Splc

c.3366-25A>G

1 paper

NM_014014.5

p.M1122Splc

c.3365+145G>A

1 paper

NM_014014.5

p.G1162E

c.3485G>A

1 paper

NM_014014.5

p.M1122delFs

c.3364delT

4 papers

NM_014014.5

p.L1184L

c.3550T>C

1 paper

NM_014014.5

p.L1114P

c.3341T>C

1 paper

NM_014014.5

p.S1187_T1194del0

c.3561_3581del21

1 paper

NM_014014.5

p.L1198L

c.3592C>T