Varaico: Literature-Extracted Genetic Variants

ALAS2

240 papers

RefSeq Summary

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-lin...

Pfam Domains

Preseq_ALASaa 5–100UCSC5-aminolevulinate synthase presequence

Aminotran_1_2aa 189–536UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

5'-aminolevulinate synthase 2

HGNC Alias Symbol

ALAS-E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000032.5

p.E569Q

c.1705G>C

Surrounding Variants

1 paper

NM_000032.5

p.E569*

c.1705G>T

2 papers

NM_000032.5

p.E569fs

c.1705_1706fs

2 papers

NM_000032.5

p.E569G

c.1706A>G

1 paper

NM_000032.5

p.E569fs

c.1705_1706fs

17 papers

NM_000032.5

p.S568G

c.1702A>G

8 papers

NM_000032.5

p.M567I

c.1701G>T

8 papers

NM_000032.5

p.M567I

c.1701G>C

8 papers

NM_000032.5

p.M567I

c.1701G>A

4 papers

NM_000032.5

p.M567delFs

c.1699_1700delAT

8 papers

NM_000032.5

p.E569_W570delFs

c.1706_1709del4

2 papers

NM_000032.5

p.M567fs

c.1699_1700fs

8 papers

NM_000032.5

p.M567V

c.1699A>G