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.R417*

c.1249C>T

Surrounding Variants

2 papers

NM_020964.3

p.A418Splc

c.1252+1G>T

2 papers

NM_020964.3

p.A418Splc

c.1252+1G>A

1 paper

NM_020964.3

p.A405_S409del5

c.1213_1226del15

4 papers

NM_020964.3

p.Y396delFs

c.1188delG

3 papers

NM_020964.3

p.Y396*

c.1188C>G

3 papers

NM_020964.3

p.Y396*

c.1188C>A

1 paper

NM_020964.3

p.L361fs

c.1081_1082fs

1 paper

NM_020964.3

p.L361V

c.1081C>G

1 paper

NM_020964.3

p.M356I

c.1068G>T

1 paper

NM_020964.3

p.M356I

c.1068G>C

1 paper

NM_020964.3

p.M356I

c.1068G>A

2 papers

NM_020964.3

p.R350C

c.1048C>T