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

3 papers

NM_002819.5

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_002819.5

p.M1K

c.2T>A

1 paper

NM_002819.5

p.M1R

c.2T>G

1 paper

NM_002819.5

p.M1L

c.1A>C

1 paper

NM_002819.5

p.M1V

c.1A>G

1 paper

NM_002819.5

p.M1I

c.3G>A

1 paper

NM_002819.5

p.D2N

c.4G>A

1 paper

NM_002819.5

p.D2A

c.5A>C

1 paper

NM_002819.5

p.D2G

c.5A>G

1 paper

NM_002819.5

p.G3S

c.7G>A

1 paper

NM_002819.5

p.G3_I4Fs

c.9_10delinsAFs

1 paper

NM_002819.5

p.I4N

c.11T>A

1 paper

NM_002819.5

p.I4T

c.11T>C