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.R898_V899delFs

c.2694_2695delAG

Surrounding Variants

1 paper

NM_020775.5

p.E884*

c.2650G>T

1 paper

NM_020775.5

p.R883Q

c.2648G>A

1 paper

NM_020775.5

p.R883*

c.2647C>T

1 paper

NM_001267048.2

p.A828T

c.2482G>A

1 paper

NM_020775.5

p.L922M

c.2764C>A

3 papers

NM_020775.5

p.L922P

c.2765T>C

1 paper

NM_020775.5

p.T927N

c.2780C>A

2 papers

NM_001267048.2

p.E880K

c.2638G>A

NM_020775.5

p.E967K

c.2899G>A

1 paper

NM_020775.5

p.P833L

c.2498C>T

2 papers

NM_020775.5

p.S829R

c.2487T>A

2 papers

NM_020775.5

p.S829R

c.2487T>G

2 papers

NM_020775.5

p.S829R

c.2485A>C