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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DPH2

DPH2

36 papers

RefSeq Summary

This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide b...

Pfam Domains

Diphthamide_synaa 54–375UCSCPutative diphthamide synthesis protein

Gene Aliases

HGNC Name

diphthamide biosynthesis 2

HGNC Previous Symbol

DPH2L2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 45 variants

3 papers

chr1:43971503 C>T

NM_001384.5

p.R201C

c.601C>T

Diphthamide_syn

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=3, hom=0)166 overlapping SVs

3 papers

chr1:43971824 C>T

NM_001384.5

p.Q308*

c.922C>T

Diphthamide_syn

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)166 overlapping SVs

3 papers

chr1:43972498 C>T

NM_001384.5

p.R477*

c.1429C>T

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=8, hom=0)166 overlapping SVs

2 papers

chr1:43971603 T>C

NM_001384.5

p.L234P

c.701T>C

Diphthamide_syn

exact variant not in gnomAD166 overlapping SVs

2 papers

chr1:43971746 C>T

NM_001384.5

p.R282C

c.844C>T

Diphthamide_syn

Exome: 0.0% (AC=533, hom=3)Genome: 0.0% (AC=27, hom=0)166 overlapping SVs

2 papers

chr1:43971986 T>A

NM_001384.5

p.C362S

c.1084T>A

Diphthamide_syn

Exome: n/aGenome: 0.0% (AC=2, hom=0)166 overlapping SVs

2 papers

chr1:43971987 G>C

NM_001384.5

p.C362S

c.1085G>C

Diphthamide_syn

exact variant not in gnomAD166 overlapping SVs

1 paper

chr1:43970221 G>A

NM_001384.5

p.E16K

c.46G>A

exact variant not in gnomAD166 overlapping SVs

1 paper

chr1:43970635 G>C

NM_001384.5

p.V63L

c.187G>C

Diphthamide_syn

exact variant not in gnomAD166 overlapping SVs

1 paper

chr1:43970635 G>T

NM_001384.5

p.V63L

c.187G>T

Diphthamide_syn

exact variant not in gnomAD166 overlapping SVs

1 paper

chr1:43970703 C>T

NM_001384.5

p.Y85Y

c.255C>T

Diphthamide_syn

Exome: 0.0% (AC=408, hom=1)Genome: 0.3% (AC=424, hom=2)166 overlapping SVs

1 paper

chr1:43970968 G>T

NM_001384.5

p.C88F

c.263G>T

Diphthamide_syn

Exome: 0.0% (AC=0, hom=0)Genome: n/a166 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."