Varaico: Literature-Extracted Genetic Variants

Gene:PABPN1

PABPN1

116 papers

RefSeq Summary

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' en...

Pfam Domains

RRM_1aa 46–115UCSCRNA recognition motif

Gene Aliases

HGNC Name

poly(A) binding protein nuclear 1

HGNC Previous Symbols

OPMD; PABP2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
13 papers
NM_004643.4
p.G12A
c.35G>C
5 papers
NM_004643.4
p.A10_A11ins0
c.30_32dupAGC
3 papers
NM_004643.4
p.A7_A8ins0
c.21_23dupGGC
3 papers
NM_004643.4
p.G12W
c.34G>T
3 papers
NM_004643.4
p.E98E
c.294G>A
3 papers
NM_004643.4
p.G290A
c.869G>C
3 papers
NM_004643.4
p.G295S
c.883G>A
2 papers
NM_004643.4
p.A5_A7ins1
c.13_21dup9
2 papers
NM_004643.4
p.A4A
c.12G>A
1 paper
NM_004643.4
p.M1T
c.2T>C
1 paper
NM_004643.4
p.A4_A8ins1
c.12_23dup12
1 paper
NM_004643.4
p.A7_A8del1
c.21_23delGGC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."