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

3 papers

NM_020964.3

p.S2099insFs

c.6295dupA

Surrounding Variants

3 papers

NM_020964.3

p.S2099fs

c.6295_6296fs

1 paper

NM_020964.3

p.W2097C

c.6291G>T

1 paper

NM_020964.3

p.W2097C

c.6291G>C

1 paper

NM_020964.3

p.N2096D

c.6286A>G

1 paper

NM_020964.3

p.E2094fs

c.6280_6281fs

2 papers

NM_020964.3

p.E2094delFs

c.6280delC

1 paper

NM_020964.3

p.E2094fs

c.6280_6281fs

2 papers

NM_020964.3

p.L2092P

c.6275T>C

1 paper

NM_020964.3

p.G2089E

c.6266G>A

1 paper

NM_020964.3

p.L2088insFs

c.6263dupT

1 paper

NM_020964.3

p.L2088fs

c.6262_6263fs

1 paper

NM_020964.3

p.M2116V

c.6346A>G