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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAB3C

Variant:p.E216A

RAB3C

16 papers

RefSeq Summary

This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a ro...

Pfam Domains

Rasaa 32–193UCSCRas family

Gene Aliases

HGNC Name

RAB3C, member RAS oncogene family

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:58851314 A>C

NM_138453.4

p.E216A

c.647A>C

Exome: 0.0% (AC=69, hom=1)Genome: 0.0% (AC=20, hom=0)70 overlapping SVs

Surrounding Variants

1 paper

chr5:58851313 G>A

NM_138453.4

p.E216K

c.646G>A

Exome: 0.0% (AC=90, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr5:58851284 C>A

NM_138453.4

p.T206N

c.617C>A

exact variant not in gnomAD70 overlapping SVs

1 paper

chr5:58851269 C>T

NM_138453.4

p.T201I

c.602C>T

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=29, hom=0)70 overlapping SVs

2 papers

chr5:58851224 G>A

NM_138453.4

p.R186H

c.557G>A

Ras

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=9, hom=0)70 overlapping SVs

1 paper

chr5:58851223 C>T

NM_138453.4

p.R186C

c.556C>T

Ras

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=9, hom=0)70 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."