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.C23S

c.68G>C

Surrounding Variants

3 papers

NM_002819.5

p.C23S

c.67T>A

1 paper

NM_002819.5

p.V24A

c.71T>C

1 paper

NM_002819.5

p.S21S

c.63T>A

1 paper

NM_002819.5

p.S21T

c.61T>A

1 paper

NM_002819.5

p.S21P

c.61T>C

1 paper

NM_002819.5

p.S21A

c.61T>G

1 paper

NM_002819.5

p.F20I

c.58T>A

1 paper

NM_002819.5

p.L19L

c.57T>A

1 paper

NM_002819.5

p.L19L

c.57T>C

1 paper

NM_002819.5

p.L19L

c.57T>G

1 paper

NM_002819.5

p.L19H

c.56T>A

1 paper

NM_002819.5

p.L19P

c.56T>C