Varaico: Literature-Extracted Genetic Variants

Gene:ALAS1
Variant:p.K59Q

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.K59Q
c.175A>C
Surrounding Variants
2 papers
NM_000688.6
p.I58F
c.172A>T
1 paper
NM_000688.6
p.E60K
c.178G>A
1 paper
NM_000688.6
p.T61insFs
c.182_183insG
1 paper
NM_000688.6
p.V53insFs
c.158_159insA
1 paper
NM_000688.6
p.S65G
c.193A>G
1 paper
NM_000688.6
p.S65C
c.193A>T
1 paper
NM_000688.6
p.S65S
c.195T>C
1 paper
NM_000688.6
p.S49insFs
c.146_147ins4
1 paper
NM_000688.6
p.M36I
c.108G>A
1 paper
NM_000688.6
p.M36I
c.108G>C
1 paper
NM_000688.6
p.M36I
c.108G>T
3 papers
NM_000688.6
p.L26L
c.76C>T
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