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.D510A

c.1529A>C

Surrounding Variants

1 paper

NM_021190.4

p.Q506P

c.1517A>C

1 paper

NM_021190.4

p.I505L

c.1513A>C

2 papers

NM_021190.4

p.E503insFs

c.1508_1509insC

1 paper

NM_021190.4

p.G517E

c.1550G>A

1 paper

NM_021190.4

p.E502insFs

c.1504_1505insTA

1 paper

NM_021190.4

p.L495insFs

c.1484_1485insG

1 paper

NM_021190.4

p.K492T

c.1475A>C

2 papers

NM_021190.4

p.S460insFs

c.1378_1379insC

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