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

6 papers

NM_030979.3

p.T147I

c.440C>T

Surrounding Variants

2 papers

NM_030979.3

p.H148Q

c.444C>A

2 papers

NM_030979.3

p.H148Q

c.444C>G

4 papers

NM_030979.3

p.H144R

c.431A>G

2 papers

NM_030979.3

p.A151T

c.451G>A

10 papers

NM_030979.3

p.A154G

c.461C>G

2 papers

NM_030979.3

p.I155fs

c.463_464fs

1 paper

NM_030979.3

p.G139R

c.415G>C

6 papers

NM_030979.3

p.I155_K156insFs

c.465_466insG

3 papers

NM_030979.3

p.K156fs

c.466_467fs

3 papers

NM_030979.3

p.K156fs

c.466_467fs

7 papers

NM_030979.3

p.K156R

c.467A>G

1 paper

NM_030979.3

p.S137F

c.410C>T