Varaico: Literature-Extracted Genetic Variants

Gene:ASTE1
Variant:p.L200R

ASTE1

60 papers

Pfam Domains

XPG_Naa 1–101UCSCXPG N-terminal domain
Asteroid_Naa 461–648UCSCAsteroid N-terminal domain

Gene Aliases

HGNC Name

asteroid structure-specific endonuclease 1

HGNC Alias Symbol

HT001

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014065.4
p.L200R
c.599T>G
Surrounding Variants
1 paper
NM_014065.4
p.M210delFs
c.628_629delAT
1 paper
NM_014065.4
p.N211delFs
c.631_632delTT
1 paper
NM_014065.4
p.G188insFs
c.562_563ins4
1 paper
NM_014065.4
p.M183_N184insQ
c.547_551ins3
2 papers
NM_014065.4
p.A219V
c.656C>T
1 paper
NM_014065.4
p.Q179R
c.536A>G
1 paper
NM_014065.4
p.D167Y
c.499G>T
1 paper
NM_014065.4
p.R240C
c.718C>T
1 paper
NM_014065.4
p.I256_L257insFs
c.768_769insAG
1 paper
NM_014065.4
p.F266V
c.796T>G
1 paper
NM_014065.4
p.R131W
c.391C>T
1 paper
NM_014065.4
p.E121insFs
c.362_363ins4
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