Varaico: Literature-Extracted Genetic Variants

ELMO3

38 papers

RefSeq Summary

The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell m...

Pfam Domains

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

ELMO_ARMaa 115–268UCSCELMO, armadillo-like helical domain

ELMO_CED12aa 291–468UCSCELMO/CED-12 family

PH_12aa 535–663UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

engulfment and cell motility 3

HGNC Alias Symbols

FLJ13824; CED12; ELMO-3; CED-12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024712.5

p.D577E

c.1731C>G

Surrounding Variants

1 paper

NM_024712.5

p.D577E

c.1731C>A

1 paper

NM_024712.5

p.R539_S554delFs

c.1616_1662del47

1 paper

NM_024712.5

p.L521L

c.1561C>T

1 paper

NM_024712.5

p.H511Y

c.1531C>T

1 paper

NM_024712.5

p.A660A

c.1980C>G

1 paper

NM_024712.5

p.Q670*

c.2008C>T

1 paper

NM_024712.5

p.L687L

c.2059C>T

1 paper

NM_024712.5

p.P699L

c.2096C>T

1 paper

NM_024712.5

p.P699P

c.2097A>C

1 paper

NM_024712.5

p.M431L

c.1291A>T

1 paper

NM_024712.5

p.Q426R

c.1277A>G

1 paper

NM_024712.5

p.K395*

c.1183A>T