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

Selected Variant

1 paper

NM_014800.11

p.R518C

c.1552C>T

Surrounding Variants

1 paper

NM_014800.11

p.R518H

c.1553G>A

1 paper

NM_014800.11

p.E521*

c.1561G>T

3 papers

NM_014800.11

p.Y511F

c.1532A>T

1 paper

NM_014800.11

p.R531H

c.1592G>A

1 paper

NM_014800.11

p.E535A

c.1604A>C

1 paper

NM_014800.11

p.L556F

c.1666C>T

1 paper

NM_014800.11

p.G559A

c.1676G>C