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.P228_A229del2

c.682_686del6

Surrounding Variants

1 paper

NM_020964.3

p.A221delFs

c.662_663delAG

2 papers

NM_020964.3

p.R238H

c.713G>A

1 paper

NM_020964.3

p.P220delFs

c.660delT

1 paper

NM_020964.3

p.Q218delFs

c.654delC

2 papers

NM_020964.3

p.R241*

c.721C>T

1 paper

NM_020964.3

p.L242L

c.726C>G

1 paper

NM_020964.3

p.P247L

c.740C>T

1 paper

NM_020964.3

p.P247Q

c.740C>A

1 paper

NM_020964.3

p.P210delFs

c.629delG

1 paper

NM_020964.3

p.T209K

c.626C>A

1 paper

NM_020964.3

p.E251_L252del1

c.752_754delGTT

3 papers

NM_020964.3

p.E258*

c.772G>T