Varaico: Literature-Extracted Genetic Variants

Gene:AMD1
Variant:p.N138K

AMD1

24 papers

RefSeq Summary

This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proli...

Pfam Domains

SAM_decarboxaa 1–257UCSCAdenosylmethionine decarboxylase
SAM_decarboxaa 4–326UCSCAdenosylmethionine decarboxylase
SAM_decarboxaa 38–206UCSCAdenosylmethionine decarboxylase

Gene Aliases

HGNC Name

adenosylmethionine decarboxylase 1

HGNC Alias Symbol

SAMDC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001634.6
p.N138K
c.414T>G
Surrounding Variants
1 paper
NM_001634.6
p.N138K
c.414T>A
1 paper
NM_001634.6
p.E135Q
c.403G>C
1 paper
NM_001634.6
p.E133Q
c.397G>C
1 paper
NM_001634.6
p.E132Q
c.394G>C
1 paper
NM_001634.6
p.H122Y
c.364C>T
1 paper
NM_001634.6
p.K115E
c.343A>G
1 paper
NM_001634.6
p.R114C
c.340C>T
1 paper
NM_001634.6
p.A98A
c.294T>A
1 paper
NM_001634.6
p.L94fs
c.280_281fs
1 paper
NM_001634.6
p.C82S
c.245G>C
1 paper
NM_001634.6
p.C82S
c.244T>A
1 paper
NM_001634.6
p.S73C
c.218C>G
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