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.T289S

c.865A>T

Surrounding Variants

1 paper

NM_030979.3

p.T289S

c.866C>G

3 papers

NM_030979.3

p.I288I

c.864C>T

2 papers

NM_030979.3

p.R290R

c.870A>G

13 papers

NM_030979.3

p.R287G

c.859A>G

16 papers

NM_030979.3

p.Q292*

c.874C>T

18 papers

NM_030979.3

p.V293G

c.878T>G

1 paper

NM_030979.3

p.L296F

c.886C>T

9 papers

NM_030979.3

p.T279K

c.836C>A

13 papers

NM_030979.3

p.R278C

c.832C>T

1 paper

NM_030979.3

p.K277fs

c.829_830fs

5 papers

NM_030979.3

p.L276H

c.827T>A

4 papers

NM_030979.3

p.L276_R278delFs

c.828_832del5