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.Q2519_A2520Splc

c.7557+2T>C

Surrounding Variants

2 papers

NM_020964.3

p.Q2519_A2520Splc

c.7557+5G>C

1 paper

NM_020964.3

p.Q2518P

c.7553A>C

1 paper

NM_020964.3

p.G2508D

c.7523G>A

1 paper

NM_020964.3

p.R2506_P2507del2

c.7516_7520del6

1 paper

NM_020964.3

p.P2507T

c.7519C>A

1 paper

NM_020964.3

p.Q2502delFs

c.7504delG

1 paper

NM_020964.3

p.M2499V

c.7495A>G

1 paper

NM_020964.3

p.F2492C

c.7475T>G

1 paper

NM_020964.3

p.F2492I

c.7474T>A

1 paper

NM_020964.3

p.R2487*

c.7459C>T

8 papers

NM_020964.3

p.R2483*

c.7447C>T

1 paper

NM_020964.3

p.S2476L

c.7427C>T