Varaico: Literature-Extracted Genetic Variants

EPG5

231 papers

RefSeq Summary

This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015].

Pfam Domains

Epg5_Naa 259–561UCSCEpg5-like N-terminal domain

TPR-like_Epg5aa 584–748UCSCEpg5-like TPR-like

TPR_Epg5_2aa 1245–1451UCSCEpg5-like, TPR repeats

TPR_Epg5aa 1708–2097UCSCEpg5-like, TPR repeats

TPR_Epg5_Caa 2320–2578UCSCEpg5-like, C-terminal TPR repeats

TPR_Epg5_Caa 2321–2530UCSCEpg5-like, C-terminal TPR repeats

Gene Aliases

HGNC Name

ectopic P-granules 5 autophagy tethering factor

HGNC Previous Symbol

KIAA1632

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020964.3

p.H532Y

c.1594C>T

Surrounding Variants

6 papers

NM_020964.3

p.E537K

c.1609G>A

1 paper

NM_020964.3

p.R538W

c.1612C>T

1 paper

NM_020964.3

p.K524Splc

c.1572-1G>T

1 paper

NM_020964.3

p.S547F

c.1640C>T

1 paper

NM_020964.3

p.T551M

c.1652C>T

1 paper

NM_020964.3

p.E555del1

c.1663_1664delTTC

1 paper

NM_020964.3

p.H511D

c.1531C>G

2 papers

NM_020964.3

p.K501*

c.1501A>T

1 paper

NM_020964.3

p.E559_D560Splc

c.1678-2A>G

1 paper

NM_020964.3

p.E559_D560Splc

c.1678-1G>T

3 papers

NM_020964.3

p.E559_D560Splc

c.1678-1G>A

1 paper

NM_020964.3

p.D560Y

c.1678G>T