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

Selected Variant

1 paper

NM_033208.4

p.F213I

c.637T>A

Surrounding Variants

1 paper

NM_033208.4

p.S211T

c.631T>A

1 paper

NM_033208.4

p.N217fs

c.649_650fs

1 paper

NM_033208.4

p.N217insFs

c.650dupA

1 paper

NM_033208.4

p.D197delFs

c.589_590delTC

1 paper

NM_033208.4

p.Q192*

c.574C>T

1 paper

NM_033208.4

p.K253Q

c.757A>C

1 paper

NM_033208.4

p.K253R

c.758A>G

1 paper

NM_033208.4

p.A172delFs

c.514delC

1 paper

NM_033208.4

p.A172fs

c.514_515fs

1 paper

NM_033208.4

p.I164delFs

c.492delG

1 paper

NM_033208.4

p.K159T

c.476A>C

1 paper

NM_033208.4

p.Q268fs

c.802_803fs