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

5 papers

NM_002819.5

p.T292S

c.874A>T

Surrounding Variants

2 papers

NM_002819.5

p.D290V

c.869A>T

2 papers

NM_002819.5

p.S288L

c.863C>T

1 paper

NM_002819.5

p.A296T

c.886G>A

1 paper

NM_002819.5

p.G298S

c.892G>A

1 paper

NM_002819.5

p.S285C

c.853A>T

1 paper

NM_002819.5

p.G283A

c.848G>C

2 papers

NM_002819.5

p.R273C

c.817C>T

1 paper

NM_002819.5

p.K271E

c.811A>G

1 paper

NM_002819.5

p.K271_R277del7

c.811_830del21

1 paper

NM_002819.5

p.K266E

c.796A>G

1 paper

NM_002819.5

p.S262N

c.785G>A

1 paper

NM_002819.5

p.K259_L260ins5

c.775_779ins15