Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6IP
Variant:p.K48R

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.K48R
c.143A>G
Surrounding Variants
1 paper
NM_013374.6
p.L49P
c.146T>C
2 papers
NM_013374.6
p.A52_A53insFs
c.154_158dup5
2 papers
NM_013374.6
p.A53T
c.157G>A
2 papers
NM_013374.6
p.V54fs
c.160_161fs
1 paper
NM_013374.6
p.A42G
c.125C>G
1 paper
NM_013374.6
p.A42T
c.124G>A
1 paper
NM_013374.6
p.G55A
c.164G>C
1 paper
NM_013374.6
p.C40S
c.118T>A
1 paper
NM_013374.6
p.L58V
c.172C>G
1 paper
NM_013374.6
p.H61Q
c.183C>G
1 paper
NM_013374.6
p.E34A
c.101A>C
1 paper
NM_013374.6
p.E34V
c.101A>T
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