Varaico: Literature-Extracted Genetic Variants

Gene:PIANP
Variant:p.S53T

PIANP

21 papers

RefSeq Summary

This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding diff...

Pfam Domains

AJAP1_PANP_Caa 159–243UCSCAJAP1/PANP C-terminus

Gene Aliases

HGNC Name

PILR alpha associated neural protein

HGNC Previous Symbol

C12orf53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001244014.2
p.S53T
c.157T>A
Surrounding Variants
1 paper
NM_001244014.2
p.S53L
c.158C>T
1 paper
NM_001244014.2
p.R63*
c.187C>T
1 paper
NM_001244014.2
p.P71S
c.211C>T
1 paper
NM_001244014.2
p.R72W
c.214C>T
1 paper
NM_001244014.2
p.A88A
c.264C>A
1 paper
NM_001244014.2
p.S12P
c.34T>C
2 papers
NM_001244014.2
p.R114*
c.340C>T
1 paper
NM_001244014.2
p.G126R
c.376G>C
1 paper
NM_001244014.2
p.G126R
c.376G>A
1 paper
NM_001244014.2
p.M148I
c.444G>T
1 paper
NM_001244014.2
p.M148I
c.444G>C
1 paper
NM_001244014.2
p.M148I
c.444G>A
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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."