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.S219N

c.656G>A

Surrounding Variants

11 papers

NM_030979.3

p.L218V

c.652T>G

1 paper

NM_030979.3

p.L218_S219insAT

c.652_656ins6

1 paper

NM_030979.3

p.A217T

c.649G>A

1 paper

NM_030979.3

p.A217fs

c.649_650fs

1 paper

NM_030979.3

p.P216P

c.648C>T

1 paper

NM_030979.3

p.V222G

c.665T>G

1 paper

NM_030979.3

p.G215R

c.643G>A

1 paper

NM_030979.3

p.G215R

c.643G>C

1 paper

NM_030979.3

p.T224T

c.672C>T

1 paper

NM_030979.3

p.D225N

c.673G>A

1 paper

NM_030979.3

p.D225Y

c.673G>T

10 papers

NM_030979.3

p.S227G

c.679A>G