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.F335L

c.1005T>A

Surrounding Variants

1 paper

NM_030979.3

p.F335L

c.1005T>G

1 paper

NM_030979.3

p.F335L

c.1003T>C

2 papers

NM_030979.3

p.F335fs

c.1003_1004fs

8 papers

NM_030979.3

p.F335fs

c.1003_1004fs

1 paper

NM_030979.3

p.V338L

c.1012G>C

1 paper

NM_030979.3

p.V338L

c.1012G>T

8 papers

NM_030979.3

p.K333fs

c.997_998fs

1 paper

NM_030979.3

p.V338E

c.1013T>A

16 papers

NM_030979.3

p.K333delFs

c.999delA

1 paper

NM_030979.3

p.E328E

c.984A>G

1 paper

NM_030979.3

p.E345K

c.1033G>A

15 papers

NM_030979.3

p.E345*

c.1033G>T