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

1 paper

NM_020964.3

p.T100I

c.299C>T

Surrounding Variants

1 paper

NM_020964.3

p.N99fs

c.295_296fs

2 papers

NM_020964.3

p.T97T

c.291G>A

1 paper

NM_020964.3

p.P102insFs

c.305dupC

1 paper

NM_020964.3

p.K104E

c.310A>G

2 papers

NM_020964.3

p.K104insFs

c.310_311dupAA

1 paper

NM_020964.3

p.E108delFs

c.322delC

3 papers

NM_020964.3

p.L88*

c.263T>G

2 papers

NM_020964.3

p.L88*

c.263T>A

1 paper

NM_020964.3

p.P120insFs

c.359dupC

1 paper

NM_020964.3

p.N76_E77delFs

c.228_229delCA

1 paper

NM_020964.3

p.S73_Q75del3

c.217_224del9

2 papers

NM_020964.3

p.A72T

c.214G>A