Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD3
Variant:p.G90Splc

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.G90Splc
c.268+6T>C
Surrounding Variants
1 paper
NM_001135022.2
p.I85S
c.254T>G
1 paper
NM_001135022.2
p.V82_T84ins1
c.246_251dup6
1 paper
NM_001135022.2
p.A81G
c.242C>G
1 paper
NM_001135022.2
p.E77D
c.231A>C
1 paper
NM_001135022.2
p.E77D
c.231A>T
4 papers
NM_001135022.2
p.T70I
c.209C>T
1 paper
NM_001135021.2
p.V67Splc
c.200-2A>G
1 paper
NM_001135022.2
p.S94I
c.281G>T
1 paper
NM_001135022.2
p.S103del1
c.307_308delTCC
1 paper
NM_001135022.2
p.S103F
c.308C>T
3 papers
NM_001135022.2
p.S105G
c.313A>G
1 paper
NM_001135022.2
p.L108P
c.323T>C
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