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

Selected Variant

1 paper

NM_001163788.4

p.R484del1

c.1450_1451delGCG

Surrounding Variants

1 paper

NM_001163788.4

p.R484delFs

c.1451_1452delGC

2 papers

NM_001163788.4

p.V494A

c.1481T>C

1 paper

NM_001163788.4

p.E495E

c.1485A>G

1 paper

NM_001163788.4

p.A497insFs

c.1489_1490ins5

1 paper

NM_001163788.4

p.D508E

c.1524C>A

3 papers

NM_001163788.4

p.R516K

c.1547G>A

1 paper

NM_001163788.4

p.K521R

c.1562A>G

1 paper

NM_001163788.4

p.Q414K

c.1240C>A

1 paper

NM_001163788.4

p.Q381*

c.1141C>T

1 paper

NM_001163788.4

p.M374_A375Fs

c.1120_1125delinsTCTTGFs

1 paper

NM_001163788.4

p.L371delFs

c.1111delA

1 paper

NM_001163788.4

p.E368K

c.1102G>A