Varaico: Literature-Extracted Genetic Variants

PTBP2

299 papers

RefSeq Summary

The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is ve...

Pfam Domains

RRM_8aa 177–265UCSCRRM-like domain

RRM_5aa 317–442UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

RRM_10aa 455–540UCSCRRM domain

Gene Aliases

HGNC Name

polypyrimidine tract binding protein 2

HGNC Alias Symbols

brPTB; nPTB; PTB; PTBLP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021190.4

p.D2A

c.5A>C

Surrounding Variants

1 paper

NM_021190.4

p.D2G

c.5A>G

1 paper

NM_021190.4

p.M1I

c.3G>A

1 paper

NM_021190.4

p.G3R

c.7G>A

1 paper

NM_021190.4

p.M1T

c.2T>C

1 paper

NM_021190.4

p.G3G

c.9A>C

1 paper

NM_021190.4

p.G11G

c.33C>T