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.V284I

c.850G>A

Surrounding Variants

1 paper

NM_024712.5

p.P295_R296insC

c.883_887ins3

1 paper

NM_024712.5

p.D252D

c.756C>T

1 paper

NM_024712.5

p.L251F

c.751C>T

1 paper

NM_024712.5

p.R337C

c.1009C>T

1 paper

NM_024712.5

p.A355T

c.1063G>A

1 paper

NM_024712.5

p.P363delFs

c.1089delC

3 papers

NM_024712.5

p.P362S

c.1084C>T

1 paper

NM_024712.5

p.K395*

c.1183A>T

1 paper

NM_024712.5

p.Q221P

c.662A>C

1 paper

NM_024712.5

p.Q426R

c.1277A>G

1 paper

NM_024712.5

p.M431L

c.1291A>T

1 paper

NM_024712.5

p.S184F

c.551C>T