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.H559R

c.1676A>G

Surrounding Variants

1 paper

NM_020775.5

p.T556I

c.1667C>T

2 papers

NM_020775.5

p.G530D

c.1589G>A

1 paper

NM_020775.5

p.G530S

c.1588G>A

1 paper

NM_020775.5

p.T521P

c.1561A>C

2 papers

NM_001284353.2

p.G178D

c.533G>A

NM_020775.5

p.G516D

c.1547G>A

1 paper

NM_020775.5

p.V500F

c.1498G>T

1 paper

NM_020775.5

p.S574Y

c.1721C>A

1 paper

NM_020775.5

p.M581R

c.1742T>G

1 paper

NM_020775.5

p.V584M

c.1750G>A

1 paper

NM_020775.5

p.R589H

c.1766G>A

1 paper

NM_020775.5

p.T617P

c.1849A>C

1 paper

NM_020775.5

p.P622insFs

c.1866dupC