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

1–12 of 250 variants

20 papers

NM_030979.3

p.K231E

c.691A>G

19 papers

NM_030979.3

p.T319I

c.956C>T

18 papers

NM_030979.3

p.V293G

c.878T>G

16 papers

NM_030979.3

p.Q292*

c.874C>T

16 papers

NM_030979.3

p.K333delFs

c.999delA

15 papers

NM_030979.3

p.V325_M327delFs

c.975_979del5

15 papers

NM_030979.3

p.E345*

c.1033G>T

14 papers

NM_030979.3

p.A313V

c.938C>T

13 papers

NM_030979.3

p.L207F

c.619C>T

13 papers

NM_030979.3

p.R272del1

c.814_815delCGG

13 papers

NM_030979.3

p.R278C

c.832C>T

13 papers

NM_030979.3

p.R287G

c.859A>G