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.G598Splc

c.1793-14T>A

Surrounding Variants

2 papers

NM_020964.3

p.G598C

c.1792G>T

2 papers

NM_020964.3

p.M610K

c.1829T>A

1 paper

NM_020964.3

p.F614fs

c.1840_1841fs

1 paper

NM_020964.3

p.F614delFs

c.1842delA

1 paper

NM_020964.3

p.E622K

c.1864G>A

1 paper

NM_020964.3

p.E629V

c.1886A>T

2 papers

NM_020964.3

p.R642*

c.1924C>T

2 papers

NM_020964.3

p.G598C

c.1792G>T

2 papers

NM_020964.3

p.G593_F594delFs

c.1777_1781del5

1 paper

NM_020964.3

p.F594fs

c.1780_1781fs

1 paper

NM_020964.3

p.G593delFs

c.1779delC

2 papers

NM_020964.3

p.Q589R

c.1766A>G