Varaico: Literature-Extracted Genetic Variants

Gene:AMD1
Variant:p.S229A

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.S229A
c.685T>G
Surrounding Variants
1 paper
NM_001634.6
p.S229T
c.685T>A
1 paper
NM_001634.6
p.S229L
c.686C>T
1 paper
NM_001634.6
p.M233I
c.699G>A
1 paper
NM_001634.6
p.M233I
c.699G>C
1 paper
NM_001634.6
p.M233I
c.699G>T
1 paper
NM_001634.6
p.D211G
c.632A>G
1 paper
NM_001634.6
p.T241T
c.723T>C
3 papers
NM_001634.6
p.E256Q
c.766G>C
1 paper
NM_001634.6
p.E256A
c.767A>C
1 paper
NM_001634.6
p.N258I
c.773A>T
1 paper
NM_001634.6
p.D266N
c.796G>A
1 paper
NM_001634.6
p.D185N
c.553G>A
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