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.S34F

c.101C>T

Surrounding Variants

2 papers

NM_020964.3

p.R31R

c.93G>A

1 paper

NM_020964.3

p.Q30*

c.88C>T

1 paper

NM_020964.3

p.T28insFs

c.84dupT

1 paper

NM_020964.3

p.T28S

c.83C>G

1 paper

NM_020964.3

p.T28S

c.82A>T

1 paper

NM_020964.3

p.Y26S

c.77A>C

2 papers

NM_020964.3

p.K25del1

c.73_75delCTT

1 paper

NM_020964.3

p.T42insFs

c.125dupC

1 paper

NM_020964.3

p.E45*

c.133G>T

3 papers

NM_020964.3

p.Q46*

c.136C>T

1 paper

NM_020964.3

p.E22V

c.65A>T

2 papers

NM_020964.3

p.K41_I48delFs

c.122_143del22