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.M1027V

c.3079A>G

Surrounding Variants

1 paper

NM_020964.3

p.G1020_L1023del4

c.3058_3068del12

1 paper

NM_020964.3

p.G1031D

c.3092G>A

1 paper

NM_020964.3

p.S1033Splc

c.3098+2T>C

3 papers

NM_020964.3

p.M1017_P1018del2

c.3049_3053del6

3 papers

NM_020964.3

p.A1015V

c.3044C>T

1 paper

NM_020964.3

p.A1012T

c.3034G>A

1 paper

NM_020964.3

p.L1010M

c.3028T>A

1 paper

NM_020964.3

p.H1007_P1008del2

c.3019_3023del6

1 paper

NM_020964.3

p.P1008fs

c.3022_3023fs

1 paper

NM_020964.3

p.H1007delFs

c.3021delA

1 paper

NM_020964.3

p.Y982fs

c.2944_2945fs

2 papers

NM_020964.3

p.D981N

c.2941G>A