Varaico: Literature-Extracted Genetic Variants

Gene:L1TD1
Variant:p.S430L

L1TD1

74 papers

Pfam Domains

Tnp_22_dsRBDaa 251–315UCSCL1 transposable element dsRBD-like domain
Transposase_22aa 699–795UCSCL1 transposable element RBD-like domain
Tnp_22_dsRBDaa 798–862UCSCL1 transposable element dsRBD-like domain

Gene Aliases

HGNC Name

LINE1 type transposase domain containing 1

HGNC Alias Symbols

FLJ10884; ECAT11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019079.5
p.S430L
c.1289C>T
Surrounding Variants
1 paper
NM_019079.5
p.E433Q
c.1297G>C
1 paper
NM_019079.5
p.A421insFs
c.1261_1262insCC
1 paper
NM_019079.5
p.A421fs
c.1261_1262fs
1 paper
NM_019079.5
p.P410A
c.1228C>G
1 paper
NM_019079.5
p.E405D
c.1215G>C
1 paper
NM_019079.5
p.E405D
c.1215G>T
1 paper
NM_019079.5
p.L403_E404del1
c.1209_1211delGGA
1 paper
NM_019079.5
p.L403_E404del2
c.1207_1211del6
1 paper
NM_019079.5
p.G402W
c.1204G>T
3 papers
NM_019079.5
p.E406_E416del0
c.1218_1247del30
1 paper
NM_019079.5
p.G464A
c.1391G>C
1 paper
NM_019079.5
p.S392*
c.1175C>A
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