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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VENTX

VENTX

16 papers

RefSeq Summary

This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cel...

Pfam Domains

Homeodomainaa 92–148UCSCHomeodomain

Gene Aliases

HGNC Name

VENT homeobox

HGNC Previous Symbol

VENTX2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 13 variants

2 papers

chr10:133238039 T>C

NM_014468.4

p.L42P

c.125T>C

Exome: 13.2% (AC=191244, hom=14677)Genome: 16.8% (AC=25580, hom=2507)12 overlapping SVs

2 papers

chr10:133240280 A>G

NM_014468.4

p.M251V

c.751A>G

Exome: 0.5% (AC=7118, hom=72)Genome: 0.5% (AC=740, hom=13)11 overlapping SVs

1 paper

chr10:133238149 A>G

NM_014468.4

p.M79V

c.235A>G

Exome: 1.0% (AC=14980, hom=617)Genome: 3.8% (AC=5746, hom=277)12 overlapping SVs

1 paper

chr10:133239706 C>T

NM_014468.4

p.A91V

c.272C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr10:133239717 C>T

NM_014468.4

p.R95C

c.283C>T

Homeodomain

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

1 paper

chr10:133239718 G>T

NM_014468.4

p.R95L

c.284G>T

Homeodomain

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

1 paper

chr10:133239735 G>A

NM_014468.4

p.E101K

c.301G>A

Homeodomain

Exome: 0.0% (AC=558, hom=8)Genome: 0.0% (AC=25, hom=0)11 overlapping SVs

1 paper

chr10:133239757 G>A

NM_014468.4

p.G108D

c.323G>A

Homeodomain

Exome: 0.0% (AC=650, hom=8)Genome: 0.4% (AC=565, hom=3)11 overlapping SVs

1 paper

chr10:133239778 A>T

NM_014468.4

p.Y115F

c.344A>T

Homeodomain

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr10:133239796 G>A

NM_014468.4

p.R121Q

c.362G>A

Homeodomain

Exome: 0.0% (AC=88, hom=0)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

1 paper

chr10:133239971 C>T

NM_014468.4

p.R148W

c.442C>T

Homeodomain

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=2, hom=0)10 overlapping SVs

1 paper

chr10:133240206 C>A

NM_014468.4

p.A226E

c.677C>A

Exome: 7.0% (AC=102461, hom=4116)Genome: 8.5% (AC=13006, hom=659)11 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."