Varaico: Literature-Extracted Genetic Variants

TIGD7

95 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 4–56UCSCCENP-B N-terminal DNA-binding domain

HTH_Tnp_Tc5aa 77–139UCSCTc5 transposase DNA-binding domain

DDE_1aa 207–399UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

tigger transposable element derived 7

HGNC Alias Symbol

Sancho

Papers

RefSeq ID

Protein change

DNA change

1–12 of 82 variants

2 papers

NM_033208.4

p.N48fs

c.142_143fs

2 papers

NM_033208.4

p.N48delFs

c.143delT

2 papers

NM_033208.4

p.R130Q

c.389G>A

2 papers

NM_033208.4

p.A300insFs

c.899dupC

2 papers

NM_033208.4

p.G312S

c.934G>A

1 paper

NM_033208.4

p.K6E

c.16A>G

1 paper

NM_033208.4

p.Y7F

c.20A>T

1 paper

NM_033208.4

p.M16I

c.48G>T

1 paper

NM_033208.4

p.M16I

c.48G>C

1 paper

NM_033208.4

p.M16I

c.48G>A

1 paper

NM_033208.4

p.L19I

c.55C>A

1 paper

NM_033208.4

p.G25R

c.73G>A