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.M851_V852Splc

c.2554-5A>G

Surrounding Variants

1 paper

NM_020964.3

p.M851_V852Splc

c.2554-1G>T

2 papers

NM_020964.3

p.Y855*

c.2565C>G

2 papers

NM_020964.3

p.Y855*

c.2565C>A

5 papers

NM_020964.3

p.E859*

c.2575G>T

3 papers

NM_020964.3

p.W865*

c.2594G>A

3 papers

NM_020964.3

p.W865*

c.2595G>A

3 papers

NM_020964.3

p.Q866Q

c.2598A>G

1 paper

NM_020964.3

p.S870C

c.2609C>G

1 paper

NM_020964.3

p.A873V

c.2618C>T

1 paper

NM_020964.3

p.R876L

c.2627G>T

4 papers

NM_020964.3

p.T885delFs

c.2653delT

3 papers

NM_020964.3

p.T885fs

c.2653_2654fs