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.T319I

c.956C>T

Surrounding Variants

1 paper

NM_002568.4

p.T319insFs

c.956_957insA

1 paper

NM_002568.4

p.T321I

c.962C>T

1 paper

NM_002568.4

p.P316fs

c.946_947fs

1 paper

NM_002568.4

p.S315F

c.944C>T

4 papers

NM_002568.4

p.E313fs

c.937_938fs

1 paper

NM_002568.4

p.E313V

c.938A>T

3 papers

NM_002568.4

p.E313insFs

c.938_939insT

1 paper

NM_002568.4

p.E313*

c.937G>T

1 paper

NM_002568.4

p.E313insFs

c.937_938insT

4 papers

NM_002568.4

p.K312delFs

c.935_936delTT

4 papers

NM_002568.4

p.K312fs

c.934_935fs

1 paper

NM_002568.4

p.K312R

c.935A>G