Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.L244R

PRF1

904 papers

RefSeq Summary

This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent ...

Pfam Domains

MACPFaa 147–367UCSCMAC/Perforin domain
C2aa 415–510UCSCC2 domain

Gene Aliases

HGNC Name

perforin 1

HGNC Alias Symbols

PFP; P1; HPLH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001083116.3
p.L244R
c.731T>G
Surrounding Variants
6 papers
NM_001083116.3
p.E243*
c.727G>T
1 paper
NM_001083116.3
p.C242C
c.726C>T
3 papers
NM_001083116.3
p.C242G
c.724T>G
3 papers
NM_001083116.3
p.G248R
c.742G>C
3 papers
NM_001083116.3
p.G248R
c.742G>A
2 papers
NM_001083116.3
p.R240H
c.719G>A
7 papers
NM_001083116.3
p.R240G
c.718C>G
1 paper
NM_001083116.3
p.R240S
c.718C>A
1 paper
NM_001083116.3
p.L239P
c.716T>C
1 paper
NM_001083116.3
p.L239Q
c.716T>A
1 paper
NM_001083116.3
p.T237N
c.710C>A
57 papers
NM_001083116.3
p.N252S
c.755A>G
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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."