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.N394ins6

c.1180_1181ins18

Surrounding Variants

2 papers

NM_030979.3

p.Q395insFs

c.1183_1184ins5

2 papers

NM_030979.3

p.Q395fs

c.1183_1184fs

1 paper

NM_030979.3

p.Q395P

c.1184A>C

1 paper

NM_030979.3

p.T405A

c.1213A>G

1 paper

NM_030979.3

p.V407I

c.1219G>A

2 papers

NM_030979.3

p.P408S

c.1222C>T

1 paper

NM_030979.3

p.T410S

c.1228A>T

1 paper

NM_030979.3

p.T410S

c.1229C>G

2 papers

NM_030979.3

p.R374H

c.1121G>A

8 papers

NM_030979.3

p.R374C

c.1120C>T

1 paper

NM_030979.3

p.E373*

c.1117G>T

7 papers

NM_030979.3

p.E372G

c.1115A>G