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.T274fs

c.820_821fs

Surrounding Variants

3 papers

NM_030979.3

p.Q273_T274delFs

c.819_822del4

9 papers

NM_030979.3

p.Q273_L276del0

c.819_827del9

2 papers

NM_030979.3

p.Q273fs

c.817_818fs

3 papers

NM_030979.3

p.E275*

c.823G>T

4 papers

NM_030979.3

p.Q273_L276del4

c.817_827del12

4 papers

NM_030979.3

p.L276fs

c.826_827fs

13 papers

NM_030979.3

p.R272del1

c.814_815delCGG

5 papers

NM_030979.3

p.L276H

c.827T>A

4 papers

NM_030979.3

p.L276_R278delFs

c.828_832del5

1 paper

NM_030979.3

p.K277fs

c.829_830fs

3 papers

NM_030979.3

p.V270_T274del0

c.810_821del12

13 papers

NM_030979.3

p.R278C

c.832C>T