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.P343S

c.1027C>T

Surrounding Variants

11 papers

NM_002568.4

p.E345*

c.1033G>T

1 paper

NM_002568.4

p.F340V

c.1018T>G

1 paper

NM_002568.4

p.C339S

c.1016G>C

1 paper

NM_002568.4

p.C339S

c.1015T>A

1 paper

NM_002568.4

p.V338G

c.1013T>G

3 papers

NM_002568.4

p.F335fs

c.1003_1004fs

1 paper

NM_002568.4

p.F335fs

c.1003_1004fs

6 papers

NM_002568.4

p.K333delFs

c.998delT

4 papers

NM_002568.4

p.K333fs

c.997_998fs

1 paper

NM_002568.4

p.S332N

c.995G>A

1 paper

NM_002568.4

p.R331H

c.992G>A

2 papers

NM_002568.4

p.G355S

c.1063G>A