Varaico: Literature-Extracted Genetic Variants

PABPC1

269 papers

RefSeq Summary

This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The bindin...

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 549–614UCSCMLLE domain

Gene Aliases

HGNC Name

poly(A) binding protein cytoplasmic 1

HGNC Previous Symbols

PAB1; PABPC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002568.4

p.S478A

c.1432T>G

Surrounding Variants

5 papers

NM_002568.4

p.R475Q

c.1424G>A

2 papers

NM_002568.4

p.R481C

c.1441C>T

1 paper

NM_002568.4

p.S470A

c.1408T>G

1 paper

NM_002568.4

p.P468_A469insG

c.1402_1406ins3

2 papers

NM_002568.4

p.R467_P468insG

c.1399_1403ins3

1 paper

NM_002568.4

p.P461S

c.1381C>T

1 paper

NM_002568.4

p.P459H

c.1376C>A

8 papers

NM_002568.4

p.I454T

c.1361T>C

1 paper

NM_002568.4

p.G452V

c.1355G>T

1 paper

NM_002568.4

p.Q448*

c.1342C>T

1 paper

NM_002568.4

p.F447fs

c.1339_1340fs

1 paper

NM_002568.4

p.P446insFs

c.1337_1338ins7