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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUDT6

Variant:p.P215S

NUDT6

37 papers

RefSeq Summary

This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse rela...

Pfam Domains

Nudix_hydroaa 46–129UCSCNudix hydrolase domain

NUDIXaa 141–271UCSCNUDIX domain

Gene Aliases

HGNC Name

nudix hydrolase 6

HGNC Alias Symbols

gfg-1; gfg; FGF2AS; FGF-AS

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:122893136 G>A

NM_007083.5

p.P215S

c.643C>T

NUDIX

exact variant not in gnomAD105 overlapping SVs

Surrounding Variants

7 papers

chr4:122893153 C>T

NM_007083.5

p.R209Q

c.626G>A

NUDIX

Exome: 19.1% (AC=279367, hom=30262)Genome: 16.0% (AC=24308, hom=2452)105 overlapping SVs

2 papers

chr4:122893009 G>A

NM_007083.5

p.T257I

c.770C>T

NUDIX

Exome: 0.2% (AC=2345, hom=6)Genome: 0.2% (AC=256, hom=2)105 overlapping SVs

1 paper

chr4:122892907 G>A

NM_007083.5

p.A291V

c.872C>T

exact variant not in gnomAD105 overlapping SVs

2 papers

chr4:122892884 T>A

NM_007083.5

p.K299*

c.895A>T

exact variant not in gnomAD105 overlapping SVs

2 papers

chr4:122897661 C>A

NM_007083.5

p.K172N

c.516G>T

NUDIX

exact variant not in gnomAD108 overlapping SVs

2 papers

chr4:122897661 C>G

NM_007083.5

p.K172N

c.516G>C

NUDIX

exact variant not in gnomAD108 overlapping SVs

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