Varaico: Literature-Extracted Genetic Variants

PTBP3

42 papers

RefSeq Summary

The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants e...

Pfam Domains

RRM_8aa 171–258UCSCRRM-like domain

RRM_5aa 329–454UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

RRM_10aa 467–552UCSCRRM domain

Gene Aliases

HGNC Name

polypyrimidine tract binding protein 3

HGNC Previous Symbol

ROD1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

3 papers

NM_001163788.4

p.R516K

c.1547G>A

2 papers

NM_001163788.4

p.V494A

c.1481T>C

1 paper

NM_001163788.4

p.A12T

c.34G>A

1 paper

NM_001163788.4

p.A12T

c.34G>A

1 paper

NM_001163788.4

p.G14E

c.41G>A

1 paper

NM_001163788.4

p.K18R

c.53A>G

1 paper

NM_001244898.1

p.R56*

c.166C>T

1 paper

NM_001163788.4

p.H34R

c.101A>G

1 paper

NM_001163788.4

p.P53S

c.157C>T

1 paper

NM_001163788.4

p.Q68*

c.202C>T

1 paper

NM_001163788.4

p.Q68Q

c.204G>A

1 paper

NM_001163788.4

p.A69T

c.205G>A