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

6 papers

NM_020964.3

p.R821*

c.2461C>T

Surrounding Variants

1 paper

NM_020964.3

p.S817*

c.2450C>A

1 paper

NM_020964.3

p.E814V

c.2441A>T

1 paper

NM_020964.3

p.H831L

c.2492A>T

2 papers

NM_020964.3

p.T809delFs

c.2427delG

1 paper

NM_020964.3

p.T809fs

c.2425_2426fs

1 paper

NM_020964.3

p.S836delFs

c.2506_2507delGA

4 papers

NM_020964.3

p.E804_V805Splc

c.2413-2A>G

1 paper

NM_020964.3

p.L838fs

c.2512_2513fs

1 paper

NM_020964.3

p.L838_L839delFs

c.2512_2515del4

2 papers

NM_020964.3

p.E844D

c.2532G>T

2 papers

NM_020964.3

p.E844D

c.2532G>C

1 paper

NM_020964.3

p.Q848fs

c.2542_2543fs