Varaico: Literature-Extracted Genetic Variants

Gene:ALAS1
Variant:p.Y354_I355insFs

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.Y354_I355insFs
c.1062_1063insC
Surrounding Variants
1 paper
NM_000688.6
p.R357C
c.1069C>T
3 papers
NM_000688.6
p.H358delFs
c.1073delA
1 paper
NM_000688.6
p.D335_H339del0
c.1004_1015del12
4 papers
NM_000688.6
p.C330W
c.990T>G
1 paper
NM_000688.6
p.A380T
c.1138G>A
1 paper
NM_000688.6
p.V384V
c.1152C>A
1 paper
NM_000688.6
p.P328S
c.982C>T
1 paper
NM_000688.6
p.S311L
c.932C>T
1 paper
NM_000688.6
p.A305insFs
c.913_914insC
1 paper
NM_000688.6
p.L300_H301insFs
c.900_901insT
1 paper
NM_000688.6
p.E294K
c.880G>A
1 paper
NM_000688.6
p.G274R
c.820G>C
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