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.V220A

c.659T>C

Surrounding Variants

1 paper

NM_002669.4

p.G202W

c.604G>T

1 paper

NM_002669.4

p.R250W

c.748C>T

1 paper

NM_002669.4

p.R257insFs

c.769_770insA

1 paper

NM_002669.4

p.R308Q

c.923G>A

1 paper

NM_002669.4

p.T184A

c.550A>G

1 paper

NM_002669.4

p.I165V

c.493A>G

1 paper

NM_002669.4

p.T367I

c.1100C>T

1 paper

NM_002669.4

p.H371Y

c.1111C>T

1 paper

NM_002669.4

p.V375A

c.1124T>C

1 paper

NM_002669.4

p.T160Fs

c.480delinsCGTFs

1 paper

NM_002669.4

p.R156H

c.467G>A

1 paper

NM_002669.4

p.P151Fs

c.453delinsCGTCCATCGCTGTAFs