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.S267L

c.800C>T

Surrounding Variants

1 paper

NM_020964.3

p.V272I

c.814G>A

2 papers

NM_020964.3

p.I262delFs

c.784delT

1 paper

NM_020964.3

p.I262fs

c.784_785fs

1 paper

NM_020964.3

p.Q259delFs

c.777delC

3 papers

NM_020964.3

p.E258*

c.772G>T

1 paper

NM_020964.3

p.E251_L252del1

c.752_754delGTT

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.L242L

c.726C>G

2 papers

NM_020964.3

p.R241*

c.721C>T

2 papers

NM_020964.3

p.R238H

c.713G>A

5 papers

NM_020964.3

p.R299*

c.895C>T