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.L77S

c.230T>C

Surrounding Variants

1 paper

NM_014800.11

p.P81_A82Splc

c.243+1G>T

1 paper

NM_014800.11

p.P81_A82Splc

c.243+2T>G

1 paper

NM_014800.11

p.G72D

c.215G>A

1 paper

NM_014800.11

p.N71fs

c.211_212fs

1 paper

NM_014800.11

p.N71insFs

c.212dupA