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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELMOD2

Variant:p.Q32R

ELMOD2

25 papers

RefSeq Summary

This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause ...

Pfam Domains

ELMO_CED12aa 110–271UCSCELMO/CED-12 family

Gene Aliases

HGNC Name

ELMO domain containing 2

HGNC Alias Symbol

MGC10084

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:140525523 A>G

NM_153702.4

p.Q32R

c.95A>G

Exome: 0.0% (AC=76, hom=1)Genome: 0.0% (AC=3, hom=0)67 overlapping SVs

Surrounding Variants

1 paper

chr4:140525544 T>G

NM_153702.4

p.V39G

c.116T>G

Exome: 0.3% (AC=4362, hom=14)Genome: 0.2% (AC=346, hom=1)67 overlapping SVs

1 paper

chr4:140525481 T>G

NM_153702.4

p.M18R

c.53T>G

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)67 overlapping SVs

1 paper

chr4:140525457 A>G

NM_153702.4

p.Y10C

c.29A>G

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=6, hom=0)67 overlapping SVs

1 paper

chr4:140525448 A>T

NM_153702.4

p.E7V

c.20A>T

exact variant not in gnomAD67 overlapping SVs

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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."