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.Q461*

c.1381C>T

Surrounding Variants

4 papers

NM_020964.3

p.L457P

c.1370T>C

1 paper

NM_020964.3

p.N447_E448del2

c.1339_1343del6

1 paper

NM_020964.3

p.F442_V446del5

c.1324_1337del15

1 paper

NM_020964.3

p.L432V

c.1294C>G

1 paper

NM_020964.3

p.S427fs

c.1279_1280fs

2 papers

NM_020964.3

p.P426delFs

c.1278delG

1 paper

NM_020964.3

p.S427fs

c.1279_1280fs

1 paper

NM_020964.3

p.P426P

c.1278C>G

1 paper

NM_020964.3

p.P426R

c.1277C>G

2 papers

NM_020964.3

p.S424N

c.1271G>A

2 papers

NM_020964.3

p.S419fs

c.1255_1256fs

3 papers

NM_020964.3

p.A418delFs

c.1254delC