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.F464S

c.1391T>C

Surrounding Variants

1 paper

NM_002819.5

p.K465*

c.1393A>T

1 paper

NM_002819.5

p.R463H

c.1388G>A

1 paper

NM_002819.5

p.H462Q

c.1386C>G

1 paper

NM_002819.5

p.P467S

c.1399C>T

1 paper

NM_002819.5

p.L461Q

c.1382T>A

2 papers

NM_002819.5

p.P460insFs

c.1378_1379insC

1 paper

NM_002819.5

p.G457G

c.1371C>G

1 paper

NM_002819.5

p.Q473H

c.1419G>C

1 paper

NM_002819.5

p.Q473H

c.1419G>T

1 paper

NM_002819.5

p.T453_G457delFs

c.1357_1370del14

1 paper

NM_002819.5

p.S479S

c.1437G>A

1 paper

NM_002819.5

p.T481T

c.1443G>T