Varaico: Literature-Extracted Genetic Variants

Gene:AMDHD1

AMDHD1

38 papers

Pfam Domains

Amidohydro_1aa 78–423UCSCAmidohydrolase family

Gene Aliases

HGNC Name

amidohydrolase domain containing 1

HGNC Alias Symbol

MGC35366

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
2 papers
NM_152435.3
p.R177W
c.529C>T
1 paper
NM_152435.3
p.S3G
c.7A>G
1 paper
NM_152435.3
p.L9L
c.27G>A
1 paper
NM_152435.3
p.E10G
c.29A>G
1 paper
NM_152435.3
p.E38Q
c.112G>C
1 paper
NM_152435.3
p.S41C
c.121A>T
1 paper
NM_152435.3
p.K46N
c.138A>T
1 paper
NM_152435.3
p.F49I
c.145T>A
1 paper
NM_152435.3
p.P55S
c.163C>T
1 paper
NM_152435.3
p.A56S
c.166G>T
1 paper
NM_152435.3
p.Q60H
c.180A>T
1 paper
NM_152435.3
p.E70V
c.209A>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."