Varaico: Literature-Extracted Genetic Variants

ELAPOR2

7q21.12 (UCSC)OMIM GTEx

47 papers

Pfam Domains

GBD_ELAPOR1-like_3rdaa 133–285UCSCELAPOR1-like, galactose-binding domain

TNFR_ELAPOR1_6thaa 397–437UCSCELAPOR1-like, TNF receptor-like

GBD_ELAPOR1aa 438–601UCSCELAPOR1-like, galactose binding domain

MRH_ELAPOR1_9thaa 674–879UCSCELAPOR1-like, mannose 6-phosphate receptor homology domain

ELAPOR1_Caa 882–918UCSCELAPOR1-like, C-terminal domain

Gene Aliases

HGNC Name

endosome-lysosome associated apoptosis and autophagy regulator family member 2

HGNC Previous Symbol

KIAA1324L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

2 papers

NM_001142749.3

p.L729V

c.2185C>G

1 paper

NM_001142749.3

p.L2insFs

c.5dupT

1 paper

NM_001142749.3

p.G13D

c.38G>A

1 paper

NM_001142749.3

p.R16Q

c.47G>A

1 paper

NM_001142749.3

p.G24R

c.70G>C

1 paper

NM_001142749.3

p.G24R

c.70G>A

1 paper

NM_001142749.3

p.S53P

c.157T>C

1 paper

NM_001142749.3

p.K64I

c.191A>T

1 paper

NM_001142749.3

p.E69D

c.207A>T

1 paper

NM_001142749.3

p.E69D

c.207A>C

1 paper

NM_001142749.3

p.C91Y

c.272G>A

1 paper

NM_001142749.3

p.C103Y

c.308G>A