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.G2468fs

c.7402_7403fs

Surrounding Variants

1 paper

NM_020964.3

p.L2467_G2468insFs

c.7401_7402insT

1 paper

NM_020964.3

p.E2460D

c.7380G>T

1 paper

NM_020964.3

p.E2460D

c.7380G>C

3 papers

NM_020964.3

p.E2460*

c.7378G>T

1 paper

NM_020964.3

p.S2476L

c.7427C>T

1 paper

NM_020964.3

p.S2476*

c.7427C>A

1 paper

NM_020964.3

p.N2455D

c.7363A>G

1 paper

NM_020964.3

p.V2450delFs

c.7348delC

1 paper

NM_020964.3

p.V2450fs

c.7348_7349fs

1 paper

NM_020964.3

p.R2445P

c.7334G>C

7 papers

NM_020964.3

p.R2445*

c.7333C>T

1 paper

NM_020964.3

p.W2420C

c.7260G>T