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

2 papers

NM_014800.11

p.M444I

c.1332G>T

Surrounding Variants

2 papers

NM_014800.11

p.M444I

c.1332G>C

2 papers

NM_014800.11

p.M444I

c.1332G>A

1 paper

NM_014800.11

p.M444L

c.1330A>T

1 paper

NM_014800.11

p.M444L

c.1330A>C

1 paper

NM_014800.11

p.D449Y

c.1345G>T

1 paper

NM_014800.11

p.D449E

c.1347C>G

1 paper

NM_014800.11

p.D449E

c.1347C>A

1 paper

NM_014800.11

p.C457S

c.1369T>A

1 paper

NM_014800.11

p.C457S

c.1370G>C

1 paper

NM_014800.11

p.I458I

c.1374C>T

1 paper

NM_014800.11

p.E469K

c.1405G>A