Varaico: Literature-Extracted Genetic Variants

Gene:HEBP2
Variant:p.P119S

HEBP2

28 papers

RefSeq Summary

The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded prot...

Pfam Domains

SOULaa 20–195UCSCSOUL heme-binding protein

Gene Aliases

HGNC Name

heme binding protein 2

HGNC Previous Symbol

C6orf34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014320.3
p.P119S
c.355C>T
Surrounding Variants
1 paper
NM_014320.3
p.F128L
c.382T>C
1 paper
NM_014320.3
p.F128L
c.384C>A
1 paper
NM_014320.3
p.F128L
c.384C>G
1 paper
NM_014320.3
p.R140W
c.418C>T
1 paper
NM_014320.3
p.R140Q
c.419G>A
2 papers
NM_014320.3
p.T51M
c.152C>T
1 paper
NM_014320.3
p.W48*
c.144G>A
1 paper
NM_014320.3
p.Q34_P35Splc
c.103-1G>C
1 paper
NM_014320.3
p.P28R
c.83C>G
1 paper
NM_014320.3
p.T22M
c.65C>T
1 paper
NM_014320.3
p.E13K
c.37G>A
1 paper
NM_014320.3
p.P9S
c.25C>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."