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.P429delFs

c.1287delC

Surrounding Variants

1 paper

NM_002819.5

p.P429P

c.1287C>G

1 paper

NM_002819.5

p.I430T

c.1289T>C

1 paper

NM_002819.5

p.R431R

c.1293C>G

1 paper

NM_002819.5

p.K424R

c.1271A>G

1 paper

NM_002819.5

p.K424Q

c.1270A>C

1 paper

NM_002819.5

p.L434L

c.1302C>T

1 paper

NM_002819.5

p.G422R

c.1264G>A

4 papers

NM_002819.5

p.N421_G422insFs

c.1263_1264insC

1 paper

NM_002819.5

p.N421Y

c.1261A>T

1 paper

NM_002819.5

p.N439Y

c.1315A>T

1 paper

NM_002819.5

p.Q447delFs

c.1339delC

1 paper

NM_002819.5

p.T453_G457delFs

c.1357_1370del14