Varaico: Literature-Extracted Genetic Variants

Gene:ASNSD1
Variant:p.Q250R

ASNSD1

44 papers

Pfam Domains

Asn_synthaseaa 509–624UCSCAsparagine synthase

Gene Aliases

HGNC Name

asparagine synthetase domain containing 1

HGNC Alias Symbols

NS3TP1; FLJ20752; NBLA00058

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019048.4
p.Q250R
c.749A>G
Surrounding Variants
1 paper
NM_019048.4
p.A252V
c.755C>T
1 paper
NM_019048.4
p.M246del1
c.736_737delATG
1 paper
NM_019048.4
p.P243H
c.728C>A
1 paper
NM_019048.4
p.D276V
c.827A>T
1 paper
NM_019048.4
p.V277I
c.829G>A
1 paper
NM_019048.4
p.P223S
c.667C>T
5 papers
NM_019048.4
p.G190R
c.568G>A
5 papers
NM_019048.4
p.G190R
c.568G>C
1 paper
NM_019048.4
p.S327F
c.980C>T
2 papers
NM_019048.4
p.R341C
c.1021C>T
1 paper
NM_019048.4
p.R141C
c.421C>T
1 paper
NM_019048.4
p.P364delFs
c.1090delC
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