Varaico: Literature-Extracted Genetic Variants

Gene:DDX60L
Variant:p.G80E

DDX60L

118 papers

RefSeq Summary

This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprise...

Pfam Domains

PIN-like_DDX60aa 6–230UCSCATP-dependent RNA helicase DDX60, PIN-like domain
TPR_DDX60aa 568–695UCSCDDX60 TPR domain
DEADaa 745–907UCSCDEAD/DEAH box helicase
Helicase_Caa 1204–1314UCSCHelicase conserved C-terminal domain
WHD_DDX60aa 1342–1424UCSCDDX60-like, winged helix domain

Gene Aliases

HGNC Name

DExD/H-box 60 like

HGNC Alias Symbol

FLJ31033

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012967.3
p.G80E
c.239G>A
Surrounding Variants
1 paper
NM_001012967.3
p.S55L
c.164C>T
1 paper
NM_001012967.3
p.F38I
c.112T>A
1 paper
NM_001012967.3
p.M13I
c.39G>A
1 paper
NM_001012967.3
p.K4N
c.12G>C
1 paper
NM_001012967.3
p.Q120R
c.359A>G
1 paper
NM_001012967.3
p.F123L
c.367T>C
1 paper
NM_001012967.3
p.F123L
c.369T>G
1 paper
NM_001012967.3
p.F123L
c.369T>A
1 paper
NM_001012967.3
p.T155T
c.465G>T
1 paper
NM_001012967.3
p.N159K
c.477C>A
1 paper
NM_001012967.3
p.G167Fs
c.500delinsGGFs
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