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.A625A

c.1875T>C

Surrounding Variants

1 paper

NM_030979.3

p.T626T

c.1878C>T

1 paper

NM_030979.3

p.S624S

c.1872T>C

1 paper

NM_030979.3

p.T618S

c.1853C>G

2 papers

NM_030979.3

p.T618A

c.1852A>G

1 paper

NM_030979.3

p.T618S

c.1852A>T

3 papers

NM_030979.3

p.V608I

c.1822G>A

1 paper

NM_030979.3

p.K601K

c.1803G>A

4 papers

NM_030979.3

p.S600Y

c.1799C>A

2 papers

NM_030979.3

p.S597L

c.1790C>T

1 paper

NM_030979.3

p.E593D

c.1779G>C

1 paper

NM_030979.3

p.E593D

c.1779G>T

3 papers

NM_030979.3

p.L592P

c.1775T>C