Varaico: Literature-Extracted Genetic Variants

TIGD6

39 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 6–57UCSCCENP-B N-terminal DNA-binding domain

HTH_Tnp_Tc5aa 75–137UCSCTc5 transposase DNA-binding domain

DDE_1aa 207–372UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

tigger transposable element derived 6

HGNC Alias Symbol

DKFZp761E2110

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_030953.4

p.Q344delFs

c.1032delT

Surrounding Variants

6 papers

NM_030953.4

p.Q344fs

c.1030_1031fs

1 paper

NM_030953.4

p.E345delFs

c.1033delC

4 papers

NM_030953.4

p.E345fs

c.1033_1034fs

1 paper

NM_030953.4

p.D354N

c.1060G>A

2 papers

NM_030953.4

p.I356T

c.1067T>C

2 papers

NM_030953.4

p.Q327R

c.980A>G

1 paper

NM_030953.4

p.V378I

c.1132G>A

1 paper

NM_030953.4

p.C307Y

c.920G>A

1 paper

NM_030953.4

p.E399K

c.1195G>A

1 paper

NM_030953.4

p.A275V

c.824C>T

1 paper

NM_030953.4

p.D419N

c.1255G>A

1 paper

NM_030953.4

p.V268M

c.802G>A