Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD3
Variant:p.Y179C

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.Y179C
c.536A>G
Surrounding Variants
1 paper
NM_001135022.2
p.T177I
c.530C>T
1 paper
NM_001135022.2
p.R173G
c.517C>G
1 paper
NM_001135022.2
p.H171insFs
c.512_513ins4
5 papers
NM_001135022.2
p.H171R
c.512A>G
1 paper
NM_001135022.2
p.H192R
c.575A>G
1 paper
NM_001135022.2
p.G193E
c.578G>A
1 paper
NM_001135022.2
p.C162W
c.486T>G
2 papers
NM_001135022.2
p.C162W
c.486T>G
1 paper
NM_001135022.2
p.I159V
c.475A>G
1 paper
NM_001135022.2
p.R150Q
c.449G>A
1 paper
NM_001135022.2
p.G141R
c.421G>A
1 paper
NM_001135022.2
p.G141R
c.421G>C
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