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

2 papers

NM_002819.5

p.S233C

c.697A>T

Surrounding Variants

1 paper

NM_002819.5

p.A229V

c.686C>T

1 paper

NM_002819.5

p.F222Y

c.665T>A

1 paper

NM_002819.5

p.T215T

c.645C>T

1 paper

NM_002819.5

p.I213I

c.639C>T

1 paper

NM_002819.5

p.K212N

c.636G>C

1 paper

NM_002819.5

p.K212N

c.636G>T

1 paper

NM_002819.5

p.K212E

c.634A>G

1 paper

NM_002819.5

p.V210V

c.630G>A

1 paper

NM_002819.5

p.K206E

c.616A>G

1 paper

NM_002819.5

p.S205C

c.614C>G

1 paper

NM_002819.5

p.G243A

c.728G>C

1 paper

NM_002819.5

p.Y247F

c.740A>T