Varaico: Literature-Extracted Genetic Variants

PLRG1

51 papers

RefSeq Summary

This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a cr...

Pfam Domains

WD40aa 194–232UCSCWD domain, G-beta repeat

WD40aa 236–274UCSCWD domain, G-beta repeat

WD40aa 278–316UCSCWD domain, G-beta repeat

WD40aa 320–358UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

pleiotropic regulator 1

HGNC Alias Symbols

PRL1; Prp46; PRPF46; TANGO4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002669.4

p.M436I

c.1308G>A

Surrounding Variants

1 paper

NM_002669.4

p.M436I

c.1308G>T

1 paper

NM_002669.4

p.M436I

c.1308G>C

1 paper

NM_002669.4

p.V454L

c.1360G>C

1 paper

NM_002669.4

p.E474G

c.1421A>G

1 paper

NM_002669.4

p.T485P

c.1453A>C

1 paper

NM_002669.4

p.T494P

c.1480A>C

1 paper

NM_002669.4

p.A495A

c.1485C>T

1 paper

NM_002669.4

p.T420M

c.1259C>T

1 paper

NM_002669.4

p.L419S

c.1256T>C

1 paper

NM_002669.4

p.S389S

c.1167T>C

1 paper

NM_002669.4

p.W504S

c.1511G>C

1 paper

NM_002669.4

p.R513T

c.1538G>C