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.V480del1

c.1438_1439delCAC

Surrounding Variants

2 papers

NM_000032.5

p.N482fs

c.1444_1445fs

1 paper

NM_000032.5

p.G481del1

c.1441_1442delGCC

1 paper

NM_000032.5

p.N482fs

c.1444_1445fs

2 papers

NM_000032.5

p.N482delFs

c.1445delT

1 paper

NM_000032.5

p.R479_V480Splc

c.1438-1G>A

1 paper

NM_000032.5

p.R479_V480Splc

c.1438-2A>G

1 paper

NM_000032.5

p.S487R

c.1459A>C

1 paper

NM_000032.5

p.S487R

c.1461C>G

1 paper

NM_000032.5

p.S487R

c.1461C>A

1 paper

NM_000032.5

p.L492_L493del1

c.1476_1478delAGG

1 paper

NM_000032.5

p.L494del1

c.1480_1481delGAG

1 paper

NM_000032.5

p.K496E

c.1486A>G