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.P19S

c.55C>T

Surrounding Variants

2 papers

NM_014800.11

p.Y18F

c.53A>T

1 paper

NM_014800.11

p.K20E

c.58A>G

1 paper

NM_014800.11

p.G16A

c.47G>C

1 paper

NM_014800.11

p.P15P

c.45G>A

1 paper

NM_014800.11

p.E23K

c.67G>A

1 paper

NM_014800.11

p.E23D

c.69A>T

1 paper

NM_014800.11

p.E23D

c.69A>C

1 paper

NM_014800.11

p.E13A

c.38A>C

1 paper

NM_014800.11

p.Q26K

c.76C>A

1 paper

NM_014800.11

p.I12V

c.34A>G

1 paper

NM_014800.11

p.V8I

c.22G>A

1 paper

NM_014800.11

p.D6N

c.16G>A