Varaico: Literature-Extracted Genetic Variants

Gene:ASPDH

ASPDH

22 papers

Pfam Domains

NAD_binding_3aa 13–124UCSCHomoserine dehydrogenase, NAD binding domain
NAD_binding_3aa 13–124UCSCHomoserine dehydrogenase, NAD binding domain
Asp_DH_Caa 170–261UCSCAspartate dehydrogenase, C-terminal

Gene Aliases

HGNC Name

aspartate dehydrogenase domain containing

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
2 papers
NM_001114598.2
p.I87F
c.259A>T
2 papers
NM_001114598.2
p.A259T
c.775G>A
2 papers
NM_001114598.2
p.Q266R
c.797A>G
1 paper
NM_001114598.2
p.R4delFs
c.10_11delCT
1 paper
NM_001114598.2
p.P6R
c.17C>G
1 paper
NM_001114598.2
p.P6delFs
c.18delC
1 paper
NM_001114598.2
p.G10_V11del2
c.28_32del6
1 paper
NM_001114598.2
p.Y14H
c.40T>C
1 paper
NM_001114598.2
p.R16H
c.47G>A
1 paper
NM_001114598.2
p.G29E
c.86G>A
1 paper
NM_001114598.2
p.G45E
c.134G>A
1 paper
NM_001114598.2
p.T106I
c.317C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."