Varaico: Literature-Extracted Genetic Variants

PTBP1

365 papers

RefSeq Summary

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnR...

Pfam Domains

RRM_5aa 39–152UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

RRM_8aa 173–260UCSCRRM-like domain

RRM_5aa 335–459UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

RRM_10aa 472–556UCSCRRM domain

Gene Aliases

HGNC Name

polypyrimidine tract binding protein 1

HGNC Previous Symbol

PTB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 273 variants

5 papers

NM_002819.5

p.T292S

c.874A>T

4 papers

NM_002819.5

p.N421_G422insFs

c.1263_1264insC

3 papers

NM_002819.5

p.M1T

c.2T>C

3 papers

NM_002819.5

p.R14Q

c.41G>A

3 papers

NM_002819.5

p.C23S

c.67T>A

3 papers

NM_002819.5

p.C23S

c.68G>C

2 papers

NM_002819.5

p.S16C

c.47C>G

2 papers

NM_002819.5

p.E18E

c.54G>A

2 papers

NM_002819.5

p.K48N

c.144A>T

2 papers

NM_002819.5

p.Q124H

c.372G>C

2 papers

NM_002819.5

p.A173T

c.517G>A

2 papers

NM_002819.5

p.S233C

c.697A>T