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.F93_S94del1

c.279_281delCTC

Surrounding Variants

1 paper

NM_020775.5

p.E99K

c.295G>A

1 paper

NM_020775.5

p.L101R

c.302T>G

1 paper

NM_020775.5

p.R123Q

c.368G>A

1 paper

NM_020775.5

p.D125H

c.373G>C

1 paper

NM_020775.5

p.S146R

c.436A>C

1 paper

NM_020775.5

p.S146R

c.438T>A

1 paper

NM_020775.5

p.S146R

c.438T>G

7 papers

NM_020775.5

p.I86V

c.256A>G

3 papers

NM_020775.5

p.H55Y

c.163C>T

1 paper

NM_020775.5

p.Y54Y

c.162C>T

1 paper

NM_020775.5

p.E53G

c.158A>G

1 paper

NM_020775.5

p.V181I

c.541G>A