Varaico: Literature-Extracted Genetic Variants

Gene:PIR
Variant:p.L68P

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.L68P
c.203T>C
Surrounding Variants
1 paper
NM_001018109.3
p.G70R
c.208G>C
1 paper
NM_001018109.3
p.G70R
c.208G>A
1 paper
NM_001018109.3
p.G70V
c.209G>T
1 paper
NM_001018109.3
p.G70A
c.209G>C
1 paper
NM_001018109.3
p.Y66F
c.197A>T
1 paper
NM_001018109.3
p.S65A
c.193T>G
2 papers
NM_001018109.3
p.D77E
c.231C>G
2 papers
NM_001018109.3
p.D77E
c.231C>A
1 paper
NM_001018109.3
p.F78V
c.232T>G
2 papers
NM_001018109.3
p.H81P
c.242A>C
1 paper
NM_001018109.3
p.G83D
c.248G>A
1 paper
NM_001018109.3
p.L90F
c.270G>T
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."