Varaico: Literature-Extracted Genetic Variants

Gene:PIR

PIR

57 papers

RefSeq Summary

This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear struct...

Pfam Domains

Pirinaa 21–118UCSCPirin
Pirin_Caa 171–277UCSCPirin C-terminal cupin domain

Gene Aliases

HGNC Name

pirin

HGNC Previous Name

pirin (iron-binding nuclear protein)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
3 papers
NM_001018109.3
p.P38L
c.113C>T
2 papers
NM_001018109.3
p.V7I
c.19G>A
2 papers
NM_001018109.3
p.G19A
c.56G>C
2 papers
NM_001018109.3
p.I28T
c.83T>C
2 papers
NM_001018109.3
p.H56Q
c.168T>G
2 papers
NM_001018109.3
p.H56Q
c.168T>A
2 papers
NM_001018109.3
p.H58R
c.173A>G
2 papers
NM_001018109.3
p.R59P
c.176G>C
2 papers
NM_001018109.3
p.G60V
c.179G>T
2 papers
NM_001018109.3
p.D77E
c.231C>G
2 papers
NM_001018109.3
p.D77E
c.231C>A
2 papers
NM_001018109.3
p.H81P
c.242A>C
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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."