Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6IP
Variant:p.Q630*

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.Q630*
c.1888C>T
Surrounding Variants
1 paper
NM_013374.6
p.K614R
c.1841A>G
1 paper
NM_013374.6
p.D579G
c.1736A>G
1 paper
NM_013374.6
p.K574R
c.1721A>G
1 paper
NM_013374.6
p.V562I
c.1684G>A
1 paper
NM_013374.6
p.S554Y
c.1661C>A
1 paper
NM_013374.6
p.S554T
c.1660T>A
1 paper
NM_013374.6
p.V551I
c.1651G>A
3 papers
NM_013374.6
p.N550S
c.1649A>G
1 paper
NM_013374.6
p.K638E
c.1912A>G
1 paper
NM_013374.6
p.V664F
c.1990G>T
1 paper
NM_013374.6
p.T681A
c.2041A>G
1 paper
NM_013374.6
p.C691S
c.2071T>A
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