Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD3

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
1–12 of 90 variants
7 papers
NM_001135022.2
p.L265S
c.794T>C
5 papers
NM_001135022.2
p.H171R
c.512A>G
4 papers
NM_001135022.2
p.R66C
c.196C>T
4 papers
NM_001135022.2
p.T70I
c.209C>T
3 papers
NM_001135022.2
p.S105G
c.313A>G
3 papers
NM_001135022.2
p.A289T
c.865G>A
2 papers
NM_001135022.2
p.R136Q
c.407G>A
2 papers
NM_001135022.2
p.C162W
c.486T>G
2 papers
NM_001135022.2
p.M226I
c.678G>A
2 papers
NM_001135022.2
p.M226I
c.678G>C
2 papers
NM_001135022.2
p.M226I
c.678G>T
2 papers
NM_001135022.2
p.E236K
c.706G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."