Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD3
Variant:p.S307S

ELMOD3

54 papers

RefSeq Summary

This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and ...

Pfam Domains

ELMO_CED12aa 154–313UCSCELMO/CED-12 family

Gene Aliases

HGNC Name

ELMO domain containing 3

HGNC Previous Symbols

RBM29; RBED1; DFNB88

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135022.2
p.S307S
c.921A>C
Surrounding Variants
1 paper
NM_001135022.2
p.D308_G310del3
c.922_929del9
1 paper
NM_001135022.2
p.S309L
c.926C>T
1 paper
NM_001135022.2
p.W299C
c.897G>C
1 paper
NM_001135022.2
p.W299C
c.897G>T
2 papers
NM_001135022.2
p.H294R
c.881A>G
1 paper
NM_001135022.2
p.F292S
c.875T>C
1 paper
NM_001135022.2
p.A290D
c.869C>A
1 paper
NM_001135022.2
p.A290V
c.869C>T
1 paper
NM_001135022.2
p.A289A
c.867C>T
3 papers
NM_001135022.2
p.A289T
c.865G>A
1 paper
NM_001135022.2
p.Y288C
c.863A>G
1 paper
NM_001135022.2
p.V283M
c.847G>A
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