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

7 papers

NM_020964.3

p.L1584*

c.4751T>A

Surrounding Variants

1 paper

NM_020964.3

p.S1589N

c.4766G>A

1 paper

NM_020964.3

p.G1591S

c.4771G>A

1 paper

NM_020964.3

p.R1576S

c.4726C>A

7 papers

NM_020964.3

p.Q1595*

c.4783C>T

1 paper

NM_020964.3

p.M1569V

c.4705A>G

4 papers

NM_020964.3

p.E1555delFs

c.4665delT

1 paper

NM_020964.3

p.E1555fs

c.4663_4664fs

1 paper

NM_020964.3

p.L1541Q

c.4622T>A

4 papers

NM_020964.3

p.Q1530*

c.4588C>T

1 paper

NM_020964.3

p.L1512P

c.4535T>C

1 paper

NM_020964.3

p.A1511V

c.4532C>T

1 paper

NM_020964.3

p.R1501Q

c.4502G>A