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

1–12 of 72 variants

5 papers

NM_133171.5

p.I606S

c.1817T>G

3 papers

NM_133171.5

p.N332S

c.995A>G

3 papers

NM_133171.5

p.I601Splc

c.1802-1G>C

2 papers

NM_133171.5

p.T355_N356Splc

c.1065+1G>A

2 papers

NM_133171.5

p.L694fs

c.2080_2081fs

2 papers

NM_133171.5

p.L694delFs

c.2080delG

2 papers

NM_133171.5

p.I706L

c.2116A>C

1 paper

NM_133171.5

p.M1V

c.1A>G

1 paper

NM_133171.5

p.P4L

c.11C>T

1 paper

NM_133171.5

p.D6N

c.16G>A

1 paper

NM_133171.5

p.I12delFs

c.35delA

1 paper

NM_133171.5

p.P15S

c.43C>T