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

2 papers

NM_020775.5

p.A675T

c.2023G>A

Surrounding Variants

1 paper

NM_020775.5

p.S690F

c.2069C>T

1 paper

NM_020775.5

p.L693L

c.2077C>T

1 paper

NM_020775.5

p.N656N

c.1968C>T

1 paper

NM_020775.5

p.N656T

c.1967A>C

1 paper

NM_020775.5

p.L693L

c.2079G>A

1 paper

NM_020775.5

p.I650L

c.1948A>C

1 paper

NM_020775.5

p.N647_N648delFs

c.1941_1942delCA

1 paper

NM_020775.5

p.C641fs

c.1921_1922fs

1 paper

NM_020775.5

p.T623fs

c.1867_1868fs

7 papers

NM_020775.5

p.T623P

c.1867A>C

1 paper

NM_020775.5

p.P622insFs

c.1866dupC

1 paper

NM_020775.5

p.T617P

c.1849A>C