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.S829R

c.2487T>G

Surrounding Variants

2 papers

NM_020775.5

p.S829R

c.2487T>A

2 papers

NM_020775.5

p.S829R

c.2485A>C

1 paper

NM_020775.5

p.P833L

c.2498C>T

1 paper

NM_020775.5

p.D794E

c.2382C>A

1 paper

NM_020775.5

p.D794E

c.2382C>G

1 paper

NM_020775.5

p.P746L

c.2237C>T

1 paper

NM_020775.5

p.A741V

c.2222C>T

1 paper

NM_001284353.2

p.I396_T397delFs

c.1188_1189delCA

1 paper

NM_001284353.2

p.I396fs

c.1186_1187fs

1 paper

NM_020775.5

p.Q707_G708Splc

c.2122-2A>G

1 paper

NM_020775.5

p.R883*

c.2647C>T

1 paper

NM_020775.5

p.R883Q

c.2648G>A