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

1–12 of 134 variants

4 papers

NM_021190.4

p.G421_L422insFs

c.1263_1264insC

2 papers

NM_021190.4

p.T73I

c.218C>T

2 papers

NM_021190.4

p.G93E

c.278G>A

2 papers

NM_021190.4

p.N433T

c.1298A>C

2 papers

NM_021190.4

p.S460insFs

c.1378_1379insC

2 papers

NM_021190.4

p.E503insFs

c.1508_1509insC

1 paper

NM_021190.4

p.M1T

c.2T>C

1 paper

NM_021190.4

p.M1I

c.3G>A

1 paper

NM_021190.4

p.D2A

c.5A>C

1 paper

NM_021190.4

p.D2G

c.5A>G

1 paper

NM_021190.4

p.G3R

c.7G>A

1 paper

NM_021190.4

p.G3G

c.9A>C