Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD3
Variant:p.P118S

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.P118S
c.352C>T
Surrounding Variants
1 paper
NM_001135022.2
p.F119L
c.355T>C
1 paper
NM_001135022.2
p.F119L
c.357C>A
1 paper
NM_001135022.2
p.F119L
c.357C>G
1 paper
NM_001135022.2
p.L116P
c.347T>C
1 paper
NM_001135022.2
p.K120_K121Splc
c.360+5G>A
1 paper
NM_001135022.2
p.L108P
c.323T>C
3 papers
NM_001135022.2
p.S105G
c.313A>G
1 paper
NM_001135022.2
p.S103F
c.308C>T
1 paper
NM_001135022.2
p.S103del1
c.307_308delTCC
1 paper
NM_001135022.2
p.S94I
c.281G>T
1 paper
NM_001135022.2
p.G90Splc
c.268+6T>C
1 paper
NM_001135022.2
p.I85S
c.254T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."