Varaico: Literature-Extracted Genetic Variants

ELMO1

101 papers

RefSeq Summary

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expr...

Pfam Domains

ELMO_Naa 6–80UCSCELMO protein N-terminal Ras-binding domain

ELMO_ARMaa 115–280UCSCELMO, armadillo-like helical domain

ELMO_CED12aa 303–481UCSCELMO/CED-12 family

PH_12aa 548–674UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

engulfment and cell motility 1

HGNC Alias Symbols

KIAA0281; CED12; ELMO-1; CED-12

Papers

RefSeq ID

Protein change

DNA change

1–12 of 132 variants

4 papers

NM_014800.11

p.Y216F

c.647A>T

4 papers

NM_014800.11

p.Y395F

c.1184A>T

3 papers

NM_014800.11

p.S207L

c.620C>T

3 papers

NM_014800.11

p.Y511F

c.1532A>T

2 papers

NM_014800.11

p.Y18F

c.53A>T

2 papers

NM_014800.11

p.L77S

c.230T>C

2 papers

NM_014800.11

p.I275M

c.825T>G

2 papers

NM_014800.11

p.N287S

c.860A>G

2 papers

NM_014800.11

p.N288K

c.864T>G

2 papers

NM_014800.11

p.N288K

c.864T>A

2 papers

NM_014800.11

p.M444I

c.1332G>T

2 papers

NM_014800.11

p.M444I

c.1332G>C