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.L53V

c.157C>G

Surrounding Variants

1 paper

NM_033208.4

p.I52S

c.155T>G

2 papers

NM_033208.4

p.N48fs

c.142_143fs

2 papers

NM_033208.4

p.N48delFs

c.143delT

1 paper

NM_033208.4

p.K58N

c.174G>C

1 paper

NM_033208.4

p.I45_K47delFs

c.135_139del5

1 paper

NM_033208.4

p.K47*

c.139A>T

1 paper

NM_033208.4

p.G65R

c.193G>C

1 paper

NM_033208.4

p.G65R

c.193G>A

1 paper

NM_033208.4

p.G65A

c.194G>C

1 paper

NM_033208.4

p.S40S

c.120A>T

1 paper

NM_033208.4

p.A66S

c.196G>T

1 paper

NM_033208.4

p.K68_T72delFs

c.204_214del11