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

3 papers

NM_133171.5

p.N332S

c.995A>G

Surrounding Variants

1 paper

NM_133171.5

p.D325_S328delFs

c.975_984del10

1 paper

NM_133171.5

p.R321_E327del0

c.961_981del21

1 paper

NM_133171.5

p.A323_A326delFs

c.969_978del10

1 paper

NM_133171.5

p.T338S

c.1012A>T

1 paper

NM_133171.5

p.T338S

c.1013C>G

1 paper

NM_133171.5

p.T355_N356Splc

c.1065+1G>T

2 papers

NM_133171.5

p.T355_N356Splc

c.1065+1G>A

1 paper

NM_133171.5

p.T355del1

c.1063_1064delGGT

1 paper

NM_133171.5

p.V291A

c.872T>C

1 paper

NM_133171.5

p.L289P

c.866T>C

1 paper

NM_133171.5

p.L289F

c.865C>T

1 paper

NM_133171.5

p.H284L

c.851A>T