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.I4T

c.11T>C

Surrounding Variants

1 paper

NM_002819.5

p.I4N

c.11T>A

1 paper

NM_002819.5

p.I4S

c.11T>G

1 paper

NM_002819.5

p.I4I

c.12T>A

1 paper

NM_002819.5

p.I4I

c.12T>C

1 paper

NM_002819.5

p.V5I

c.13G>A

1 paper

NM_002819.5

p.G3_I4Fs

c.9_10delinsAFs

1 paper

NM_002819.5

p.P6T

c.16C>A

1 paper

NM_002819.5

p.P6S

c.16C>T

1 paper

NM_002819.5

p.D7insFs

c.19_20dupGA

1 paper

NM_002819.5

p.D7fs

c.19_20fs

1 paper

NM_002819.5

p.I8M

c.24A>G

1 paper

NM_002819.5

p.A9T

c.25G>A