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

9 papers

NM_000032.5

p.M426V

c.1276A>G

Surrounding Variants

2 papers

NM_000032.5

p.M426I

c.1278G>T

2 papers

NM_000032.5

p.M426I

c.1278G>C

2 papers

NM_000032.5

p.M426I

c.1278G>A

1 paper

NM_000032.5

p.V427L

c.1279G>C

1 paper

NM_000032.5

p.V427V

c.1281G>A

2 papers

NM_000032.5

p.L428P

c.1283T>C

1 paper

NM_000032.5

p.T421insFs

c.1261dupA

1 paper

NM_000032.5

p.T420insFs

c.1260dupC

2 papers

NM_000032.5

p.E433K

c.1297G>A

3 papers

NM_000032.5

p.I418S

c.1253T>G

1 paper

NM_000032.5

p.F417S

c.1250T>C

8 papers

NM_000032.5

p.G416D

c.1247G>A