Varaico: Literature-Extracted Genetic Variants

Gene:ALAS1
Variant:p.S152N

ALAS1

92 papers

RefSeq Summary

This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate ...

Pfam Domains

Preseq_ALASaa 2–138UCSC5-aminolevulinate synthase presequence
Aminotran_1_2aa 243–590UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

5'-aminolevulinate synthase 1

HGNC Previous Symbol

ALAS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000688.6
p.S152N
c.455G>A
Surrounding Variants
1 paper
NM_000688.6
p.V154A
c.461T>C
1 paper
NM_000688.6
p.A149_G150delFs
c.445_448del4
1 paper
NM_000688.6
p.K157insFs
c.470_471insA
1 paper
NM_000688.6
p.K157I
c.470A>T
1 paper
NM_000688.6
p.A145V
c.434C>T
1 paper
NM_000688.6
p.E143Splc
c.428-1G>A
1 paper
NM_000688.6
p.L167L
c.499C>T
1 paper
NM_000688.6
p.K168insFs
c.503_504insT
1 paper
NM_000688.6
p.F170S
c.509T>C
1 paper
NM_000688.6
p.Q171R
c.512A>G
2 papers
NM_000688.6
p.I173I
c.519C>T
1 paper
NM_000688.6
p.R178S
c.534A>C
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