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

15 papers

NM_030979.3

p.V325_M327delFs

c.975_979del5

Surrounding Variants

9 papers

NM_030979.3

p.V325fs

c.973_974fs

1 paper

NM_030979.3

p.V325F

c.973G>T

3 papers

NM_030979.3

p.M326fs

c.976_977fs

7 papers

NM_030979.3

p.M326fs

c.976_977fs

1 paper

NM_030979.3

p.E328E

c.984A>G

1 paper

NM_030979.3

p.T321S

c.962C>G

1 paper

NM_030979.3

p.T321S

c.961A>T

2 papers

NM_030979.3

p.I320fs

c.958_959fs

1 paper

NM_030979.3

p.T319insFs

c.956_957insA

19 papers

NM_030979.3

p.T319I

c.956C>T

16 papers

NM_030979.3

p.K333delFs

c.999delA

8 papers

NM_030979.3

p.K333fs

c.997_998fs