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.Q471L

c.1412A>T

Surrounding Variants

1 paper

NM_033208.4

p.G465fs

c.1393_1394fs

1 paper

NM_033208.4

p.L477S

c.1430T>C

1 paper

NM_033208.4

p.K464insFs

c.1392dupA

1 paper

NM_033208.4

p.G456R

c.1366G>C

1 paper

NM_033208.4

p.G456R

c.1366G>A

1 paper

NM_033208.4

p.P495H

c.1484C>A

1 paper

NM_033208.4

p.R499T

c.1496G>C

1 paper

NM_033208.4

p.Q509*

c.1525C>T

1 paper

NM_033208.4

p.L424_C427del4

c.1270_1280del12

1 paper

NM_033208.4

p.L415S

c.1244T>C

1 paper

NM_033208.4

p.S540N

c.1619G>A

1 paper

NM_033208.4

p.S543A

c.1627T>G