Varaico: Literature-Extracted Genetic Variants

Gene:PIR
Variant:p.H58R

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
Selected Variant
2 papers
NM_001018109.3
p.H58R
c.173A>G
Surrounding Variants
2 papers
NM_001018109.3
p.R59P
c.176G>C
1 paper
NM_001018109.3
p.R59Q
c.176G>A
2 papers
NM_001018109.3
p.H56Q
c.168T>G
2 papers
NM_001018109.3
p.H56Q
c.168T>A
1 paper
NM_001018109.3
p.G60S
c.178G>A
2 papers
NM_001018109.3
p.G60V
c.179G>T
1 paper
NM_001018109.3
p.P54S
c.160C>T
1 paper
NM_001018109.3
p.K46E
c.136A>G
1 paper
NM_001018109.3
p.E44K
c.130G>A
1 paper
NM_001018109.3
p.L41Q
c.122T>A
1 paper
NM_001018109.3
p.L41L
c.121C>T
3 papers
NM_001018109.3
p.P38L
c.113C>T
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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."