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

3 papers

NM_030979.3

p.K444M

c.1331A>T

Surrounding Variants

3 papers

NM_030979.3

p.S446G

c.1336A>G

4 papers

NM_030979.3

p.I448T

c.1343T>C

1 paper

NM_030979.3

p.R449H

c.1346G>A

4 papers

NM_030979.3

p.G451A

c.1352G>C

3 papers

NM_030979.3

p.V455L

c.1363G>C

3 papers

NM_030979.3

p.V455L

c.1363G>T

7 papers

NM_030979.3

p.V455A

c.1364T>C

1 paper

NM_030979.3

p.M460V

c.1378A>G

1 paper

NM_030979.3

p.M460R

c.1379T>G

1 paper

NM_030979.3

p.R424R

c.1272A>G

2 papers

NM_030979.3

p.R424Q

c.1271G>A

1 paper

NM_030979.3

p.R424delins

c.1271_1272delinsAG