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

2 papers

NM_030979.3

p.K254fs

c.760_761fs

Surrounding Variants

4 papers

NM_030979.3

p.K254fs

c.760_761fs

7 papers

NM_030979.3

p.K254insFs

c.761_762insT

1 paper

NM_030979.3

p.K254M

c.761A>T

7 papers

NM_030979.3

p.M251I

c.753G>A

7 papers

NM_030979.3

p.M251I

c.753G>C

7 papers

NM_030979.3

p.M251I

c.753G>T

1 paper

NM_030979.3

p.G258*

c.772G>T

1 paper

NM_030979.3

p.G258G

c.774A>G

1 paper

NM_030979.3

p.V248V

c.744A>G

1 paper

NM_030979.3

p.Q260R

c.779A>G

1 paper

NM_030979.3

p.A244V

c.731C>T

1 paper

NM_030979.3

p.E242E

c.726A>G