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

Selected Variant

1 paper

NM_001142749.3

p.F714L

c.2142C>A

Surrounding Variants

1 paper

NM_001142749.3

p.F714L

c.2142C>G

1 paper

NM_001142749.3

p.F714L

c.2140T>C

1 paper

NM_001142749.3

p.T705I

c.2114C>T

1 paper

NM_001142749.3

p.G701D

c.2102G>A

1 paper

NM_001142749.3

p.N691S

c.2072A>G

1 paper

NM_001142749.3

p.Q665_D666Splc

c.1996-1G>A

1 paper

NM_001142749.3

p.C618Y

c.1853G>A

1 paper

NM_001142749.3

p.R580W

c.1738C>T

2 papers

NM_001142749.3

p.L729V

c.2185C>G

1 paper

NM_001142749.3

p.G745E

c.2234G>A

1 paper

NM_001142749.3

p.S767R

c.2299A>C

1 paper

NM_001142749.3

p.S767R

c.2301T>G