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.P81R

c.242C>G

Surrounding Variants

1 paper

NM_002819.5

p.P81L

c.242C>T

1 paper

NM_002819.5

p.L80V

c.238C>G

1 paper

NM_002819.5

p.G79R

c.235G>A

1 paper

NM_002819.5

p.G79R

c.235G>C

1 paper

NM_002819.5

p.L78V

c.232C>G

1 paper

NM_002819.5

p.K84K

c.252G>A

1 paper

NM_002819.5

p.S77F

c.230C>T

1 paper

NM_002819.5

p.G73G

c.219G>A

1 paper

NM_002819.5

p.M90I

c.270G>A

1 paper

NM_002819.5

p.M90I

c.270G>C

1 paper

NM_002819.5

p.M90I

c.270G>T

1 paper

NM_002819.5

p.T71A

c.211A>G