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

7 papers

NM_030979.3

p.V365L

c.1093G>T

Surrounding Variants

7 papers

NM_030979.3

p.V365L

c.1093G>C

7 papers

NM_030979.3

p.E372G

c.1115A>G

1 paper

NM_030979.3

p.E373*

c.1117G>T

8 papers

NM_030979.3

p.R374C

c.1120C>T

2 papers

NM_030979.3

p.R374H

c.1121G>A

1 paper

NM_030979.3

p.N354N

c.1062C>T

1 paper

NM_030979.3

p.A346V

c.1037C>T

1 paper

NM_030979.3

p.A346_N354del9

c.1036_1061del27

1 paper

NM_030979.3

p.E345K

c.1033G>A

15 papers

NM_030979.3

p.E345*

c.1033G>T

1 paper

NM_030979.3

p.V338E

c.1013T>A

1 paper

NM_030979.3

p.V338L

c.1012G>C