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

12 papers

NM_002568.4

p.Y408F

c.1223A>T

Surrounding Variants

9 papers

NM_002568.4

p.F409L

c.1225T>C

1 paper

NM_002568.4

p.F409S

c.1226T>C

9 papers

NM_002568.4

p.F409L

c.1227C>G

10 papers

NM_002568.4

p.F409L

c.1227C>A

1 paper

NM_002568.4

p.P404S

c.1210C>T

10 papers

NM_002568.4

p.P414S

c.1240C>T

8 papers

NM_002568.4

p.P402L

c.1205C>T

1 paper

NM_002568.4

p.N394H

c.1180A>C

1 paper

NM_002568.4

p.P393L

c.1178C>T

1 paper

NM_002568.4

p.V392V

c.1176T>G

1 paper

NM_002568.4

p.A376T

c.1126G>A

1 paper

NM_002568.4

p.R374H

c.1121G>A