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.Y28Y

c.84C>T

Surrounding Variants

2 papers

NM_030979.3

p.K30del1

c.88_89delAAG

1 paper

NM_030979.3

p.A25V

c.74C>T

1 paper

NM_030979.3

p.P33T

c.97C>A

1 paper

NM_030979.3

p.A34V

c.101C>T

1 paper

NM_030979.3

p.D21N

c.61G>A

1 paper

NM_030979.3

p.R41G

c.121C>G

2 papers

NM_030979.3

p.G16R

c.46G>A

1 paper

NM_030979.3

p.G16R

c.46G>C

4 papers

NM_030979.3

p.R41R

c.123G>C

2 papers

NM_030979.3

p.V15V

c.45G>C

1 paper

NM_030979.3

p.V15M

c.43G>A

1 paper

NM_030979.3

p.C43R

c.127T>C