Varaico: Literature-Extracted Genetic Variants

Gene:TIGD5
Variant:p.L613M

TIGD5

25 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 53–102UCSCCENP-B N-terminal DNA-binding domain
HTH_Tnp_Tc5aa 121–185UCSCTc5 transposase DNA-binding domain
DDE_1aa 272–376UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

tigger transposable element derived 5

HGNC Alias Symbol

FLJ14926

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032862.5
p.L613M
c.1837C>A
Surrounding Variants
1 paper
NM_032862.5
p.R619C
c.1855C>T
1 paper
NM_032862.5
p.S623N
c.1868G>A
1 paper
NM_032862.5
p.G630fs
c.1888_1889fs
2 papers
NM_032862.5
p.M568I
c.1704G>A
2 papers
NM_032862.5
p.M568I
c.1704G>C
2 papers
NM_032862.5
p.M568I
c.1704G>T
1 paper
NM_032862.5
p.S493T
c.1478G>C
1 paper
NM_032862.5
p.G462G
c.1386C>T
1 paper
NM_032862.5
p.Q427K
c.1279C>A
1 paper
NM_032862.5
p.V421L
c.1261G>C
1 paper
NM_032862.5
p.V421L
c.1261G>T
1 paper
NM_032862.5
p.S364fs
c.1090_1091fs
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