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.E330delFs

c.988delC

Surrounding Variants

1 paper

NM_020964.3

p.K329fs

c.985_986fs

1 paper

NM_020964.3

p.R324delFs

c.970_971delCG

26 papers

NM_020964.3

p.Q336R

c.1007A>G

1 paper

NM_020964.3

p.Q336delFs

c.1007_1008delCT

1 paper

NM_020964.3

p.S323I

c.968G>T

1 paper

NM_020964.3

p.T315_C318delFs

c.944_953del10

1 paper

NM_020964.3

p.E308K

c.922G>A

1 paper

NM_020964.3

p.A307delFs

c.921delA

1 paper

NM_020964.3

p.L305V

c.913C>G

1 paper

NM_020964.3

p.L304delFs

c.912delC

5 papers

NM_020964.3

p.R299*

c.895C>T

1 paper

NM_020964.3

p.V272I

c.814G>A