Varaico: Literature-Extracted Genetic Variants

PABPC3

180 papers

RefSeq Summary

Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM, Jul 2002]...

Pfam Domains

RRM_1aa 13–83UCSCRNA recognition motif

RRM_1aa 101–168UCSCRNA recognition motif

RRM_1aa 193–262UCSCRNA recognition motif

RRM_1aa 296–364UCSCRNA recognition motif

MLLEaa 544–609UCSCMLLE domain

Gene Aliases

HGNC Name

poly(A) binding protein cytoplasmic 3

HGNC Previous Symbol

PABPL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030979.3

p.Q88_D90del3

c.262_269del9

Surrounding Variants

3 papers

NM_030979.3

p.D90_S92delFs

c.270_274del5

6 papers

NM_030979.3

p.P91delFs

c.272delC

4 papers

NM_030979.3

p.P91_S92delFs

c.273_276del4

1 paper

NM_030979.3

p.R83C

c.247C>T

1 paper

NM_030979.3

p.R94R

c.280C>A

2 papers

NM_030979.3

p.R94*

c.280C>T

1 paper

NM_030979.3

p.K95*

c.283A>T

1 paper

NM_030979.3

p.G97R

c.289G>A

1 paper

NM_030979.3

p.G97R

c.289G>C

1 paper

NM_030979.3

p.G97E

c.290G>A

1 paper

NM_030979.3

p.N73insFs

c.218_219insAT

1 paper

NM_030979.3

p.N73fs

c.217_218fs