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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EEF1AKMT4

EEF1AKMT4

8 papers

RefSeq Summary

This gene encodes a member of the lysine-specific methyltransferase (KMT) family. The encoded enzyme catalyzes the methylation of lysine-36 of the eukaryotic translation elongation factor 1 alpha. Met...

Pfam Domains

Methyltransf_11aa 63–173UCSCMethyltransferase domain

Gene Aliases

HGNC Name

EEF1A lysine methyltransferase 4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr3:184258462 G>A

NM_032331.4

p.V219M

c.655G>A

Exome: 0.0% (AC=20, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr3:184249764 G>C

NM_032331.4

p.E24Q

c.70G>C

Exome: 0.0% (AC=70, hom=1)Genome: 0.0% (AC=15, hom=0)35 overlapping SVs

1 paper

chr3:184257539 A>C

NM_032331.4

p.D88A

c.263A>C

Methyltransf_25 Methyltransf_11

Exome: 0.0% (AC=1, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr3:184257577 C>T

NM_032331.4

p.H101Y

c.301C>T

Methyltransf_25 Methyltransf_11

Exome: 97.1% (AC=1420096, hom=689885)Genome: 98.2% (AC=149640, hom=73494)34 overlapping SVs

1 paper

chr3:184257670 A>G

NM_032331.4

p.T132A

c.394A>G

Methyltransf_25 Methyltransf_11

exact variant not in gnomAD34 overlapping SVs

1 paper

chr3:184257671 C>T

NM_032331.4

p.T132M

c.395C>T

Methyltransf_25 Methyltransf_11

Exome: 0.1% (AC=1701, hom=1)Genome: 0.2% (AC=261, hom=0)34 overlapping SVs

1 paper

chr3:184257677 A>C

NM_032331.4

p.D134A

c.401A>C

Methyltransf_25 Methyltransf_11

exact variant not in gnomAD34 overlapping SVs

1 paper

chr3:184258295 G>A

NM_032331.4

p.R163H

c.488G>A

Methyltransf_11

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=5, hom=0)34 overlapping SVs

1 paper

chr3:184258316 G>A

NM_032331.4

p.R170Q

c.509G>A

Methyltransf_11

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=9, hom=0)34 overlapping SVs

1 paper

chr3:184258449 CG>C

NM_032331.4

p.G215delFs

c.643delG

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=4, hom=0)35 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."