Varaico: Literature-Extracted Genetic Variants

ELAPOR1

79 papers

RefSeq Summary

Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain ca...

Pfam Domains

GBD_ELAPOR1-like_3rdaa 121–270UCSCELAPOR1-like, galactose-binding domain

TNFR_ELAPOR1_6thaa 381–420UCSCELAPOR1-like, TNF receptor-like

GBD_ELAPOR1aa 421–585UCSCELAPOR1-like, galactose binding domain

Gene Aliases

HGNC Name

endosome-lysosome associated apoptosis and autophagy regulator 1

HGNC Previous Symbol

KIAA1324

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020775.5

p.T34I

c.101C>T

Surrounding Variants

1 paper

NM_020775.5

p.L29M

c.85C>A

1 paper

NM_020775.5

p.R21H

c.62G>A

1 paper

NM_020775.5

p.H47H

c.141T>C

1 paper

NM_020775.5

p.A12_R13ins4

c.36_37ins12

1 paper

NM_020775.5

p.H6N

c.16C>A

1 paper

NM_020775.5

p.P4R

c.11C>G