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.T224P

c.670A>C

Surrounding Variants

1 paper

NM_014800.11

p.A220A

c.660G>A

4 papers

NM_014800.11

p.Y216F

c.647A>T

1 paper

NM_014800.11

p.N211S

c.632A>G

1 paper

NM_014800.11

p.S207S

c.621G>A

3 papers

NM_014800.11

p.S207L

c.620C>T

1 paper

NM_014800.11

p.I204V

c.610A>G

1 paper

NM_014800.11

p.D194G

c.581A>G

1 paper

NM_014800.11

p.A192V

c.575C>T

1 paper

NM_014800.11

p.A245P

c.733G>C

1 paper

NM_014800.11

p.K183*

c.547A>T

1 paper

NM_014800.11

p.S177_K182del0

c.529_546del18

1 paper

NM_014800.11

p.S177L

c.530C>T