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.T410S

c.1228A>T

Surrounding Variants

1 paper

NM_030979.3

p.T410S

c.1229C>G

2 papers

NM_030979.3

p.P408S

c.1222C>T

1 paper

NM_030979.3

p.V407I

c.1219G>A

1 paper

NM_030979.3

p.T405A

c.1213A>G

1 paper

NM_030979.3

p.Y417H

c.1249T>C

1 paper

NM_030979.3

p.Y417S

c.1250A>C

2 papers

NM_030979.3

p.P419A

c.1255C>G

2 papers

NM_030979.3

p.R424Q

c.1271G>A

1 paper

NM_030979.3

p.R424delins

c.1271_1272delinsAG

1 paper

NM_030979.3

p.Q395P

c.1184A>C

1 paper

NM_030979.3

p.R424R

c.1272A>G

2 papers

NM_030979.3

p.Q395insFs

c.1183_1184ins5