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.D303N

c.907G>A

Surrounding Variants

1 paper

NM_030979.3

p.L296F

c.886C>T

1 paper

NM_030979.3

p.K312fs

c.934_935fs

13 papers

NM_030979.3

p.K312R

c.935A>G

1 paper

NM_030979.3

p.K312_A313Fs

c.935_938delinsGATFs

13 papers

NM_030979.3

p.A313delFs

c.937delG

18 papers

NM_030979.3

p.V293G

c.878T>G

8 papers

NM_030979.3

p.A313fs

c.937_938fs

6 papers

NM_030979.3

p.A313fs

c.937_938fs

1 paper

NM_030979.3

p.A313E

c.938C>A

14 papers

NM_030979.3

p.A313V

c.938C>T

16 papers

NM_030979.3

p.Q292*

c.874C>T

2 papers

NM_030979.3

p.R290R

c.870A>G