Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6IP
Variant:p.D141N

PDCD6IP

183 papers

RefSeq Summary

This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using m...

Pfam Domains

BRO1aa 4–378UCSCBRO1-like domain
ALIX_LYPXL_bndaa 412–701UCSCALIX V-shaped domain binding to HIV

Gene Aliases

HGNC Name

programmed cell death 6 interacting protein

HGNC Alias Symbols

Alix; AIP1; Hp95

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013374.6
p.D141N
c.421G>A
Surrounding Variants
1 paper
NM_013374.6
p.N142D
c.424A>G
1 paper
NM_013374.6
p.E137D
c.411A>C
1 paper
NM_013374.6
p.E137D
c.411A>T
1 paper
NM_013374.6
p.E137A
c.410A>C
1 paper
NM_013374.6
p.E137Q
c.409G>C
1 paper
NM_013374.6
p.I148T
c.443T>C
1 paper
NM_013374.6
p.A149T
c.445G>A
1 paper
NM_013374.6
p.A131V
c.392C>T
1 paper
NM_013374.6
p.L130V
c.388T>G
2 papers
NM_013374.6
p.K120R
c.359A>G
1 paper
NM_013374.6
p.E119K
c.355G>A
3 papers
NM_013374.6
p.G117E
c.350G>A
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