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.E69Q

c.205G>C

Surrounding Variants

1 paper

NM_021190.4

p.T71delFs

c.211delA

1 paper

NM_021190.4

p.T71A

c.211A>G

1 paper

NM_021190.4

p.P67T

c.199C>A

1 paper

NM_021190.4

p.L66I

c.196T>A

2 papers

NM_021190.4

p.T73I

c.218C>T

1 paper

NM_021190.4

p.I63M

c.189T>G

1 paper

NM_021190.4

p.L61H

c.182T>A

1 paper

NM_021190.4

p.A77T

c.229G>A

1 paper

NM_021190.4

p.A77P

c.229G>C

1 paper

NM_021190.4

p.A77V

c.230C>T

1 paper

NM_021190.4

p.R59C

c.175C>T

1 paper

NM_021190.4

p.G79S

c.235G>A