Varaico: Literature-Extracted Genetic Variants

ELMO2

58 papers

RefSeq Summary

The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells a...

Pfam Domains

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

ELMO_ARMaa 115–272UCSCELMO, armadillo-like helical domain

ELMO_CED12aa 295–474UCSCELMO/CED-12 family

PH_12aa 541–667UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

engulfment and cell motility 2

HGNC Alias Symbols

CED12; ELMO-2; CED-12; KIAA1834; FLJ11656

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133171.5

p.L202fs

c.604_605fs

Surrounding Variants

1 paper

NM_133171.5

p.S193_V201insFs

c.579_603dup25

1 paper

NM_133171.5

p.M200V

c.598A>G

1 paper

NM_133171.5

p.E198A

c.593A>C

1 paper

NM_133171.5

p.M184I

c.552G>T

1 paper

NM_133171.5

p.M184I

c.552G>C

1 paper

NM_133171.5

p.M184I

c.552G>A

1 paper

NM_133171.5

p.A148P

c.442G>C

1 paper

NM_133171.5

p.R251*

c.751C>T

1 paper

NM_133171.5

p.E119A

c.356A>C

1 paper

NM_133171.5

p.A108_K109insFs

c.324_325ins10

1 paper

NM_133171.5

p.L101Q

c.302T>A

1 paper

NM_133171.5

p.R86C

c.256C>T