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.Q124Q

c.372G>A

Surrounding Variants

2 papers

NM_002819.5

p.Q124H

c.372G>C

1 paper

NM_002819.5

p.Y127*

c.381C>A

1 paper

NM_002819.5

p.Q129H

c.387G>C

1 paper

NM_002819.5

p.V117G

c.350T>G

1 paper

NM_002819.5

p.S116L

c.347C>T

1 paper

NM_002819.5

p.H133P

c.398A>C

1 paper

NM_002819.5

p.K134Q

c.400A>C

1 paper

NM_002819.5

p.N112K

c.336C>A

1 paper

NM_002819.5

p.N112K

c.336C>G

1 paper

NM_002819.5

p.K137E

c.409A>G

1 paper

NM_002819.5

p.T138A

c.412A>G

1 paper

NM_002819.5

p.V111M

c.331G>A