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.N159delFs

c.476delT

Surrounding Variants

1 paper

NM_020964.3

p.F160C

c.479T>G

1 paper

NM_020964.3

p.T163delFs

c.488delG

1 paper

NM_020964.3

p.S161_T163del3

c.481_488del9

1 paper

NM_020964.3

p.G149_G150delFs

c.447_448delCA

1 paper

NM_020964.3

p.N169K

c.507T>G

1 paper

NM_020964.3

p.N169K

c.507T>A

1 paper

NM_020964.3

p.Q148_G149delFs

c.442_446del5

1 paper

NM_020964.3

p.Q171*

c.511C>T

1 paper

NM_020964.3

p.S146insFs

c.437dupC

1 paper

NM_020964.3

p.R173S

c.519A>T

1 paper

NM_020964.3

p.R173S

c.519A>C

1 paper

NM_020964.3

p.E142*

c.424G>T