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.S137F

c.410C>T

Surrounding Variants

1 paper

NM_030979.3

p.G139R

c.415G>C

1 paper

NM_030979.3

p.N135K

c.405T>A

3 papers

NM_030979.3

p.C132G

c.394T>G

4 papers

NM_030979.3

p.H144R

c.431A>G

3 papers

NM_030979.3

p.N129K

c.387C>A

3 papers

NM_030979.3

p.N129K

c.387C>G

1 paper

NM_030979.3

p.S127S

c.381G>A

6 papers

NM_030979.3

p.T147I

c.440C>T

2 papers

NM_030979.3

p.H148Q

c.444C>A

3 papers

NM_030979.3

p.L126V

c.376C>G

2 papers

NM_030979.3

p.H148Q

c.444C>G

1 paper

NM_030979.3

p.N124K

c.372C>A