Varaico: Literature-Extracted Genetic Variants

Gene:PIR
Variant:p.M1V

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
1 paper
NM_001018109.3
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001018109.3
p.M1delFs
c.1_2delAT
1 paper
NM_001018109.3
p.M1_G2del2
c.1_5del6
1 paper
NM_001018109.3
p.S4F
c.11C>T
2 papers
NM_001018109.3
p.V7I
c.19G>A
1 paper
NM_001018109.3
p.T8I
c.23C>T
1 paper
NM_001018109.3
p.E18G
c.53A>G
2 papers
NM_001018109.3
p.G19A
c.56G>C
1 paper
NM_001018109.3
p.V20L
c.58G>C
1 paper
NM_001018109.3
p.V24F
c.70G>T
1 paper
NM_001018109.3
p.V24I
c.70G>A
1 paper
NM_001018109.3
p.R25W
c.73C>T
1 paper
NM_001018109.3
p.R25Q
c.74G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."