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

1–12 of 555 variants

26 papers

NM_020964.3

p.Q336R

c.1007A>G

8 papers

NM_020964.3

p.R2078*

c.6232C>T

8 papers

NM_020964.3

p.R2483*

c.7447C>T

7 papers

NM_020964.3

p.R417*

c.1249C>T

7 papers

NM_020964.3

p.L1584*

c.4751T>A

7 papers

NM_020964.3

p.Q1595*

c.4783C>T

7 papers

NM_020964.3

p.R2445*

c.7333C>T

6 papers

NM_020964.3

p.E537K

c.1609G>A

6 papers

NM_020964.3

p.R821*

c.2461C>T

5 papers

NM_020964.3

p.R299*

c.895C>T

5 papers

NM_020964.3

p.E859*

c.2575G>T

5 papers

NM_020964.3

p.R955*

c.2863C>T