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

Selected Variant

1 paper

NM_002819.5

p.R185S

c.555G>C

Surrounding Variants

1 paper

NM_002819.5

p.R185S

c.555G>T

1 paper

NM_002819.5

p.R185_E189delFs

c.554_567del14

1 paper

NM_002819.5

p.V183V

c.549G>T

1 paper

NM_002819.5

p.V188A

c.563T>C

1 paper

NM_002819.5

p.P194A

c.580C>G

1 paper

NM_002819.5

p.T196A

c.586A>G

1 paper

NM_002819.5

p.G174W

c.520G>T

2 papers

NM_002819.5

p.A173T

c.517G>A

1 paper

NM_002819.5

p.V199delFs

c.596delT

1 paper

NM_002819.5

p.V199V

c.597G>A

1 paper

NM_002819.5

p.V171L

c.511G>C

1 paper

NM_002819.5

p.A170A

c.510C>T