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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM31

TRIM31

41 papers

RefSeq Summary

This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing ...

Pfam Domains

zf-C3HC4_4aa 16–56UCSCzinc finger of C3HC4-type, RING

zf-B_boxaa 90–131UCSCB-box zinc finger

Gene Aliases

HGNC Name

tripartite motif containing 31

HGNC Alias Symbol

HCGI

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 42 variants

4 papers

chr6:30103586 C>A

NM_007028.5

p.E410*

c.1228G>T

Exome: 0.5% (AC=7293, hom=25)Genome: 0.3% (AC=507, hom=3)54 overlapping SVs

3 papers

chr6:30110498 C>T

NM_007028.5

p.V232I

c.694G>A

Exome: 14.8% (AC=215656, hom=17588)Genome: 11.4% (AC=17342, hom=1196)53 overlapping SVs

3 papers

chr6:30103553 C>T

NM_007028.5

p.E421K

c.1261G>A

Exome: 27.2% (AC=396761, hom=55999)Genome: 28.6% (AC=43467, hom=6590)54 overlapping SVs

2 papers

chr6:30112790 A>G

NM_007028.5

p.F6L

c.16T>C

exact variant not in gnomAD53 overlapping SVs

2 papers

chr6:30112788 A>C

NM_007028.5

p.F6L

c.18T>G

Exome: 0.2% (AC=3345, hom=30)Genome: 1.0% (AC=1564, hom=24)53 overlapping SVs

2 papers

chr6:30112788 A>T

NM_007028.5

p.F6L

c.18T>A

exact variant not in gnomAD53 overlapping SVs

2 papers

chr6:30112756 G>C

NM_007028.5

p.P17R

c.50C>G

zf-C3HC4_4

Exome: 0.2% (AC=2995, hom=24)Genome: 1.1% (AC=1717, hom=25)53 overlapping SVs

2 papers

chr6:30112664 A>G

NM_007028.5

p.C48R

c.142T>C

zf-C3HC4_4

Exome: 0.1% (AC=1423, hom=2)Genome: 0.0% (AC=58, hom=0)53 overlapping SVs

2 papers

chr6:30110553 C>T

NM_007028.5

p.A213A

c.639G>A

Exome: 14.6% (AC=213331, hom=17464)Genome: 10.3% (AC=15658, hom=1094)53 overlapping SVs

2 papers

chr6:30110488 A>G

NM_007028.5

p.L235P

c.704T>C

Exome: 0.2% (AC=2990, hom=24)Genome: 1.1% (AC=1711, hom=25)53 overlapping SVs

2 papers

chr6:30103731 C>CN

NM_007028.5

p.L361fs

c.1081_1082fs

exact variant not in gnomAD54 overlapping SVs

1 paper

chr6:30112805 T>C

NM_007028.5

p.M1V

c.1A>G

Exome: 0.1% (AC=838, hom=2)Genome: 0.1% (AC=200, hom=0)53 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."