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

2 papers

NM_021190.4

p.S460insFs

c.1378_1379insC

Surrounding Variants

1 paper

NM_021190.4

p.S454A

c.1360T>G

1 paper

NM_021190.4

p.P453_L457delFs

c.1357_1370del14

1 paper

NM_021190.4

p.I450T

c.1349T>C

1 paper

NM_021190.4

p.P442A

c.1324C>G

1 paper

NM_021190.4

p.K440E

c.1318A>G

1 paper

NM_021190.4

p.S434A

c.1300T>G

2 papers

NM_021190.4

p.N433T

c.1298A>C

4 papers

NM_021190.4

p.G421_L422insFs

c.1263_1264insC

1 paper

NM_021190.4

p.R419L

c.1256G>T

1 paper

NM_021190.4

p.K403R

c.1208A>G

1 paper

NM_021190.4

p.Q398Q

c.1194G>A

1 paper

NM_021190.4

p.N396S

c.1187A>G