Varaico: Literature-Extracted Genetic Variants

PTBP2

299 papers

RefSeq Summary

The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is ve...

Pfam Domains

RRM_8aa 177–265UCSCRRM-like domain

RRM_5aa 317–442UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

RRM_10aa 455–540UCSCRRM domain

Gene Aliases

HGNC Name

polypyrimidine tract binding protein 2

HGNC Alias Symbols

brPTB; nPTB; PTB; PTBLP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021190.4

p.G93E

c.278G>A

Surrounding Variants

1 paper

NM_021190.4

p.G93A

c.278G>C

1 paper

NM_021190.4

p.Q96K

c.286C>A

1 paper

NM_021190.4

p.Q96Q

c.288G>A

1 paper

NM_021190.4

p.M90_Q96del7

c.268_287del21

1 paper

NM_021190.4

p.T86insFs

c.257_258insT

1 paper

NM_021190.4

p.K84K

c.252G>A

1 paper

NM_021190.4

p.P81L

c.242C>T

1 paper

NM_021190.4

p.G79S

c.235G>A

1 paper

NM_021190.4

p.G79R

c.235G>C

1 paper

NM_021190.4

p.A77V

c.230C>T

1 paper

NM_021190.4

p.A77T

c.229G>A

1 paper

NM_021190.4

p.A77P

c.229G>C