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.M31T

c.92T>C

Surrounding Variants

1 paper

NM_002819.5

p.M31L

c.91A>T

1 paper

NM_002819.5

p.M31I

c.93G>A

1 paper

NM_002819.5

p.I30M

c.90C>G

1 paper

NM_002819.5

p.S33G

c.97A>G

1 paper

NM_002819.5

p.G27G

c.81A>G

1 paper

NM_002819.5

p.S37P

c.109T>C

1 paper

NM_002819.5

p.S37Y

c.110C>A

1 paper

NM_002819.5

p.V24A

c.71T>C

1 paper

NM_002819.5

p.A38A

c.114A>T

3 papers

NM_002819.5

p.C23S

c.68G>C

3 papers

NM_002819.5

p.C23S

c.67T>A

1 paper

NM_002819.5

p.S21S

c.63T>A