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.G283S

c.847G>A

Surrounding Variants

1 paper

NM_000032.5

p.G283D

c.848G>A

1 paper

NM_000032.5

p.A282S

c.844G>T

1 paper

NM_000032.5

p.D281delFs

c.843delG

1 paper

NM_000032.5

p.H285D

c.853C>G

1 paper

NM_000032.5

p.C276_I278del3

c.826_833del9

1 paper

NM_000032.5

p.I278ins1

c.832_833insAAT

1 paper

NM_000032.5

p.M288K

c.863T>A

1 paper

NM_000032.5

p.E277*

c.829G>T

3 papers

NM_000032.5

p.I289T

c.866T>C

6 papers

NM_000032.5

p.C276W

c.828C>G

1 paper

NM_000032.5

p.G275E

c.824G>A

1 paper

NM_000032.5

p.G275Splc

c.824-1G>T