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

1–12 of 61 variants

2 papers

NM_145702.4

p.K194delFs

c.582delC

2 papers

NM_145702.4

p.K213_A214insFs

c.639_640insC

1 paper

NM_145702.4

p.M1K

c.2T>A

1 paper

NM_145702.4

p.M23T

c.68T>C

1 paper

NM_145702.4

p.I24insFs

c.71_72insA

1 paper

NM_145702.4

p.E29*

c.85G>T

1 paper

NM_145702.4

p.G30V

c.89G>T

1 paper

NM_145702.4

p.S32*

c.95C>G

1 paper

NM_145702.4

p.S32*

c.95C>A

1 paper

NM_145702.4

p.G41S

c.121G>A

1 paper

NM_145702.4

p.P66Q

c.197C>A

1 paper

NM_145702.4

p.R70Q

c.209G>A