Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD3
Variant:p.Q246L

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.Q246L
c.737A>T
Surrounding Variants
1 paper
NM_001135022.2
p.R242H
c.725G>A
1 paper
NM_001135022.2
p.R239H
c.716G>A
2 papers
NM_001135022.2
p.E236K
c.706G>A
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
1 paper
NM_001135022.2
p.G214S
c.640G>A
1 paper
NM_001135022.2
p.R211K
c.632G>A
1 paper
NM_001135022.2
p.G203Splc
c.608-14G>A
1 paper
NM_001135022.2
p.G193E
c.578G>A
1 paper
NM_001135022.2
p.H192R
c.575A>G
1 paper
NM_001135022.2
p.Y179C
c.536A>G
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