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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AK6

AK6

10 papers

RefSeq Summary

This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating r...

Pfam Domains

AAA_18aa 6–126UCSCAAA domain

Gene Aliases

HGNC Name

adenylate kinase 6

HGNC Alias Symbol

CINAP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr5:69355745 T>C

NM_016283.5

p.D77G

c.230A>G

AAA_18

exact variant not in gnomAD78 overlapping SVs

1 paper

chr5:69366539 G>A

NM_016283.5

p.L29L

c.85C>T

AAA_18

Exome: 0.0% (AC=611, hom=3)Genome: 0.4% (AC=638, hom=8)76 overlapping SVs

1 paper

chr5:69366508 C>T

NM_016283.5

p.R39Q

c.116G>A

AAA_18

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=2, hom=0)76 overlapping SVs

1 paper

chr5:69366506 C>T

NM_016283.5

p.E40K

c.118G>A

AAA_18

Exome: 0.0% (AC=1, hom=0)Genome: n/a76 overlapping SVs

1 paper

chr5:69366482 T>G

NM_016283.5

p.E41Splc

c.121+21A>C

exact variant not in gnomAD76 overlapping SVs

1 paper

chr5:69364930 C>T

NM_016283.5

p.E41Splc

c.121+1573G>A

exact variant not in gnomAD76 overlapping SVs

1 paper

chr5:69355785 C>T

NM_016283.5

p.E64K

c.190G>A

AAA_18

Exome: 0.0% (AC=1, hom=0)Genome: n/a78 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."