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.P131L

c.392C>T

Surrounding Variants

3 papers

NM_002669.4

p.L130I

c.388T>A

1 paper

NM_002669.4

p.A122V

c.365C>T

1 paper

NM_002669.4

p.M117L

c.349A>T

1 paper

NM_002669.4

p.M117L

c.349A>C

1 paper

NM_002669.4

p.I114T

c.341T>C

1 paper

NM_002669.4

p.P151Fs

c.453delinsCGTCCATCGCTGTAFs

1 paper

NM_002669.4

p.R156H

c.467G>A

1 paper

NM_002669.4

p.T160Fs

c.480delinsCGTFs

1 paper

NM_002669.4

p.A95G

c.284C>G

1 paper

NM_002669.4

p.I165V

c.493A>G

1 paper

NM_002669.4

p.Y82S

c.245A>C

1 paper

NM_002669.4

p.Q71R

c.212A>G