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.G55C

c.163G>T

Surrounding Variants

1 paper

NM_002819.5

p.G55A

c.164G>C

1 paper

NM_002819.5

p.A54T

c.160G>A

1 paper

NM_002819.5

p.S58S

c.174T>A

1 paper

NM_002819.5

p.V60V

c.180G>A

1 paper

NM_002819.5

p.K48N

c.144A>C

2 papers

NM_002819.5

p.K48N

c.144A>T

1 paper

NM_002819.5

p.K46T

c.137A>C

1 paper

NM_002819.5

p.K46R

c.137A>G

1 paper

NM_002819.5

p.K45K

c.135G>A

1 paper

NM_002819.5

p.K45N

c.135G>C

1 paper

NM_002819.5

p.K45N

c.135G>T

1 paper

NM_002819.5

p.K45Q

c.133A>C