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.P362fs

c.1084_1085fs

Surrounding Variants

1 paper

NM_002568.4

p.P362L

c.1085C>T

8 papers

NM_002568.4

p.V365L

c.1093G>T

8 papers

NM_002568.4

p.V365L

c.1093G>C

1 paper

NM_002568.4

p.R356T

c.1067G>C

1 paper

NM_002568.4

p.A346_N354del9

c.1036_1061del27

2 papers

NM_002568.4

p.G355S

c.1063G>A

1 paper

NM_002568.4

p.Q369*

c.1105C>T

13 papers

NM_002568.4

p.E372G

c.1115A>G

15 papers

NM_002568.4

p.R374C

c.1120C>T

1 paper

NM_002568.4

p.R374H

c.1121G>A

1 paper

NM_002568.4

p.A376T

c.1126G>A

11 papers

NM_002568.4

p.E345*

c.1033G>T