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

3 papers

NM_030979.3

p.A494_A495del1

c.1482_1484delTGC

Surrounding Variants

4 papers

NM_030979.3

p.R487C

c.1459C>T

1 paper

NM_030979.3

p.A493fs

c.1477_1478fs

1 paper

NM_030979.3

p.A493S

c.1477G>T

2 papers

NM_030979.3

p.A495del1

c.1483_1484delGCA

6 papers

NM_030979.3

p.V484M

c.1450G>A

1 paper

NM_030979.3

p.V500M

c.1498G>A

1 paper

NM_030979.3

p.V500V

c.1500G>C

4 papers

NM_030979.3

p.R501C

c.1501C>T

1 paper

NM_030979.3

p.T502T

c.1506G>C

8 papers

NM_030979.3

p.R475C

c.1423C>T

2 papers

NM_030979.3

p.R505Q

c.1514G>A

2 papers

NM_030979.3

p.T473T

c.1419G>A