Varaico: Literature-Extracted Genetic Variants

TIGD1

24 papers

RefSeq Summary

The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematod...

Pfam Domains

CENP-B_Naa 9–61UCSCCENP-B N-terminal DNA-binding domain

HTH_Tnp_Tc5aa 79–151UCSCTc5 transposase DNA-binding domain

DDE_1aa 216–403UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

tigger transposable element derived 1

HGNC Alias Symbol

EEYORE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145702.4

p.P197A

c.589C>G

Surrounding Variants

2 papers

NM_145702.4

p.K194delFs

c.582delC

1 paper

NM_145702.4

p.W193*

c.579G>A

1 paper

NM_145702.4

p.T200N

c.599C>A

1 paper

NM_145702.4

p.W193*

c.578G>A

1 paper

NM_145702.4

p.I202T

c.605T>C

1 paper

NM_145702.4

p.E188_T189delFs

c.563_567del5

1 paper

NM_145702.4

p.D187insFs

c.560_561ins5

1 paper

NM_145702.4

p.K213*

c.637A>T

1 paper

NM_145702.4

p.K213N

c.639A>T

1 paper

NM_145702.4

p.K213N

c.639A>C

2 papers

NM_145702.4

p.K213_A214insFs

c.639_640insC

1 paper

NM_145702.4

p.T220delFs

c.658delT