Varaico: Literature-Extracted Genetic Variants

Gene:AMDHD2

AMDHD2

38 papers

Pfam Domains

Amidohydro_1aa 62–401UCSCAmidohydrolase family

Gene Aliases

HGNC Name

amidohydrolase domain containing 2

HGNC Alias Symbol

CGI-14

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
2 papers
NM_001330449.2
p.A8Fs
c.23delinsCGFs
2 papers
NM_001330449.2
p.R243C
c.727C>T
2 papers
NM_001330449.2
p.G265R
c.793G>C
2 papers
NM_001330449.2
p.L318Q
c.953T>A
1 paper
NM_001330449.2
p.G3S
c.7G>A
1 paper
NM_001330449.2
p.E4K
c.10G>A
1 paper
NM_001330449.2
p.G24V
c.71G>T
1 paper
NM_001330449.2
p.L31L
c.91C>T
1 paper
NM_001330449.2
p.V33L
c.97G>C
1 paper
NM_001330449.2
p.R37H
c.110G>A
1 paper
NM_001330449.2
p.I38T
c.113T>C
1 paper
NM_001330449.2
p.R49Q
c.146G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."