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.G243A

c.728G>C

Surrounding Variants

1 paper

NM_002819.5

p.Y247F

c.740A>T

1 paper

NM_002819.5

p.N248D

c.742A>G

1 paper

NM_002819.5

p.A249T

c.745G>A

1 paper

NM_002819.5

p.A249S

c.745G>T

1 paper

NM_002819.5

p.C251Y

c.752G>A

1 paper

NM_002819.5

p.R254H

c.761G>A

1 paper

NM_002819.5

p.R254R

c.762C>T

1 paper

NM_002819.5

p.S258A

c.772T>G

1 paper

NM_002819.5

p.K259_L260ins5

c.775_779ins15

1 paper

NM_002819.5

p.K259E

c.775A>G

1 paper

NM_002819.5

p.S262N

c.785G>A

1 paper

NM_002819.5

p.K266E

c.796A>G