Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6IP
Variant:p.P749A

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.P749A
c.2245C>G
Surrounding Variants
1 paper
NM_013374.6
p.P749H
c.2246C>A
1 paper
NM_013374.6
p.T750I
c.2249C>T
1 paper
NM_013374.6
p.P752A
c.2254C>G
1 paper
NM_013374.6
p.P755A
c.2263C>G
1 paper
NM_013374.6
p.P801S
c.2401C>T
1 paper
NM_013374.6
p.Q814*
c.2440C>T
1 paper
NM_013374.6
p.R745G
c.2233A>G
1 paper
NM_013374.6
p.P818P
c.2454C>T
1 paper
NM_013374.6
p.P742A
c.2224C>G
1 paper
NM_013374.6
p.P737R
c.2210C>G
1 paper
NM_013374.6
p.P737L
c.2210C>T
1 paper
NM_013374.6
p.A825T
c.2473G>A
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