Varaico: Literature-Extracted Genetic Variants

Gene:TIGD2
Variant:p.Q131H

TIGD2

21 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 4–55UCSCCENP-B N-terminal DNA-binding domain
HTH_Tnp_Tc5aa 76–139UCSCTc5 transposase DNA-binding domain
DDE_1aa 206–385UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

tigger transposable element derived 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145715.3
p.Q131H
c.393G>T
Surrounding Variants
1 paper
NM_145715.3
p.Q131H
c.393G>C
1 paper
NM_145715.3
p.R132H
c.395G>A
1 paper
NM_145715.3
p.A121S
c.361G>T
1 paper
NM_145715.3
p.D148N
c.442G>A
1 paper
NM_145715.3
p.G157D
c.470G>A
1 paper
NM_145715.3
p.L186V
c.556C>G
1 paper
NM_145715.3
p.T62I
c.185C>T
1 paper
NM_145715.3
p.C202Y
c.605G>A
1 paper
NM_145715.3
p.M212I
c.636G>A
1 paper
NM_145715.3
p.M212I
c.636G>C
1 paper
NM_145715.3
p.M212I
c.636G>T
1 paper
NM_145715.3
p.L225I
c.673C>A
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