Varaico: Literature-Extracted Genetic Variants

Gene:ALAS1

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
1–12 of 99 variants
6 papers
NM_000688.6
p.R225G
c.673C>G
4 papers
NM_000688.6
p.C330W
c.990T>G
3 papers
NM_000688.6
p.L26L
c.76C>T
3 papers
NM_000688.6
p.R225*
c.673C>T
3 papers
NM_000688.6
p.H358delFs
c.1073delA
2 papers
NM_000688.6
p.R6C
c.16C>T
2 papers
NM_000688.6
p.R13Q
c.38G>A
2 papers
NM_000688.6
p.I58F
c.172A>T
2 papers
NM_000688.6
p.I173I
c.519C>T
1 paper
NM_000688.6
p.S12F
c.35C>T
1 paper
NM_000688.6
p.S12S
c.36C>A
1 paper
NM_000688.6
p.V14I
c.40G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."