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

9 papers

NM_002568.4

p.R493C

c.1477C>T

Surrounding Variants

1 paper

NM_002568.4

p.A498T

c.1492G>A

1 paper

NM_002568.4

p.A498A

c.1494C>T

5 papers

NM_002568.4

p.V505I

c.1513G>A

1 paper

NM_002568.4

p.V505A

c.1514T>C

2 papers

NM_002568.4

p.A504del1

c.1510_1511delAGC

7 papers

NM_002568.4

p.R506C

c.1516C>T

1 paper

NM_002568.4

p.A514T

c.1540G>A

3 papers

NM_002568.4

p.V517L

c.1549G>C

2 papers

NM_002568.4

p.R481C

c.1441C>T

1 paper

NM_002568.4

p.M532_Q533insFs

c.1596_1597insG

1 paper

NM_002568.4

p.S478A

c.1432T>G

1 paper

NM_002568.4

p.Q534_P535Splc

c.1602+1G>C